Information on the following diseases can be found in the Related Disorders section of this report:

• Seckel Syndrome
• Trichorhinophalangeal Syndromes Types I, II, and III
• Ectodermal Dysplasias (General)
• Associated Congenital Disorders (General)
• Shwachman Syndrome
• Cystic Fibrosis
• McKusick Type Metaphyseal Chondrodysplasia
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Johanson-Blizzard Syndrome (JBS) is an extremely rare inherited disorder characterized by distinctive abnormalities of the head and facial (craniofacial) area; insufficient intestinal absorption (malabsorption) of necessary nutrients due to abnormal development of the pancreas (exocrine pancreatic insufficiency); abnormally decreased activity of the thyroid gland and underproduction of thyroid hormones (hypothyroidism); short stature; hearing impairment; and/or developmental abnormalities. The range and severity of symptoms may vary greatly from case to case.

Infants with JBS typically have distinctive craniofacial abnormalities at birth. The most striking, constant craniofacial feature associated with Johanson-Blizzard Syndrome may be an unusually small nose that appears "beak shaped" due to absence (aplasia) or underdevelopment (hypoplasia) of the nostrils (nasal alae). In addition, some affected infants may have an abnormally small head (microcephaly), a small, underdeveloped upper jaw (maxillary hypoplasia), absence of the small openings in the inner corners of the eyelids where tears normally drain (lacrimal puncta aplasia), and/or an abnormal passage that carries tears directly from the interior opening of the nasal passage (interior nasal meatus) to the surface of the skin (nasolacrimo-cutaneous fistula). Affected infants may also lack of skin and hair (aplasia cutis) by the soft spots in the front and back of the skull (anterior and posterior fontanelles).

Many infants with Johanson-Blizzard Syndrome may also have characteristic abnormalities of the hair. For example, the scalp hair, which is often blond, may be unusually sparse, dry, and coarse. In addition, scalp hair patterning may be abnormal, demonstrating a distinctive "upsweep" in the forehead area and abnormal extension of the hairline onto the sides of the forehead. In many cases, during later childhood, there may also be abnormal bald patches (alopecia) on the scalp where skin dimples were previously apparent at birth.

In most cases, affected infants and children also have distinctive abnormalities of the teeth. The primary (deciduous) teeth may be abnormally small (microdontia), cone-shaped, and widely spaced, with short, malformed, irregular roots. The majority of the secondary (permanent) teeth are absent. Those teeth that do appear may also be abnormally small and malformed with short, misshapen roots.

In addition, infants with Johanson-Blizzard Syndrome may have a low birth weight, be abnormally small, and demonstrate generalized poor muscle tone (hypotonia) as well as excessive mobility (hyperextensibility) of the joints. In all reported cases, affected infants demonstrate signs of insufficient intestinal absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (exocrine pancreatic insufficiency).

One of the primary functions of the pancreas is to produce certain digestive enzymes. Pancreatic cells called "acinar cells" produce such digestive enzymes. In Johanson-Blizzard Syndrome, however, affected individuals lack a sufficient number of properly functioning acinar cells, and pancreatic tissue may be replaced by abnormal accumulations of fat. As a result, there is a deficiency in the amount of digestive enzymes required to break down food (exocrine pancreatic insufficiency), which, in turn, prevents fats and other essential nutrients from being absorbed properly (malabsorption) in the intestines.

In individuals with Johanson-Blizzard Syndrome, intestinal malabsorption results in large, loose, foul smelling stools that contain an excessive amount of fat (steatorrhea) and other nutrients. Affected infants may also fail to gain the expected amount of weight or may lose weight (failure to thrive). In addition, pancreatic insufficiency may result in deficiencies of certain vitamins (e.g., vitamins A, D, and/or E), chronic anemia, low levels of calcium in the blood (hypocalcemia), and additional nutritional deficiencies. For example, affected infants experience protein loss characterized by abnormally decreased levels of protein in the blood (hypoproteinemia), which, in turn, leads to excessive accumulation of body fluids (edema) in the soft layers of tissue under the skin. In many cases, severe, generalized edema (anasarca) may be apparent at birth. Pitting edema, in which pressure on affected skin tissue produces prolonged "pits" or indentations, tends to be striking in the hands and feet.

Children with Johanson-Blizzard Syndrome may be smaller than expected for their ages, with below average height (short stature) and weight, and approximately 80 percent of affected children demonstrate delayed bone age. Although malabsorption due to pancreatic insufficiency may itself cause problems with growth and nutrition, it is important to note that short stature appears to be one of the many primary manifestations of Johanson-Blizzard Syndrome. (For example, even with appropriate treatment leading to improved absorption of nutrients and acceptable weight gain [see "Standard Therapies" below], most affected children will be smaller and shorter than average for their ages.)

Approximately 30 percent of affected individuals also demonstrate abnormally decreased activity of the thyroid gland and underproduction of thyroid hormones (hypothyroidism). The thyroid gland, located at the base of the neck, secretes hormones (e.g., thyroxine) that play an essential role in regulating the rates of metabolism and growth. Symptoms associated with hypothyroidism, which tend to be progressive in nature, usually become apparent during childhood; however, in very rare cases, they may begin to occur during early infancy. In affected individuals, hypothyroidism may result in generalized weakness and fatigue and may contribute to growth retardation and abnormal delays in the acquisition of skills requiring the coordination of mental and physicial activity (psychomotor retardation).

In many cases, children with Johanson-Blizzard Syndrome also demonstrate hearing impairment of both ears at birth due to abnormalities of the inner ear (congenital bilateral sensorineural hearing loss). Such hearing impairment as well as psychomotor delays often result in severe speech impairment.

Although approximately 60 percent of affected children also have moderate mental retardation, some children with Johanson-Blizzard Syndrome may have normal intelligence or mild retardation.

In most cases, infants and children with Johanson-Blizzard Syndrome also have additional physical abnormalities. Many may demonstrate abnormal persistence of the anal membrane, causing full or partial closure of the anus (imperforate anus or anal stenosis), which, in turn, prevents the normal passage of bowel contents. In some cases, affected individuals may also have abnormalities of the genital and urinary (genitourinary) tracts. In affected males, such malformations may include abnormal placement of the urinary opening (meatus) on the underside of the penis (hypospadias) and/or an abnormally small penis (micropenis). Affected females may have an abnormal partition dividing the vagina (double or septate vagina), unusual enlargement of the elongated organ partially enclosed within the folds of skin surrounding the vaginal opening (clitoromegaly), an abnormal passage joining the vagina and the tubular structure through which urine is excreted (urethrovaginal fistula), and a single urogenital opening (orifice). In addition, in some cases, affected males and females may demonstrate abnormal swelling (distention) of and accumulation of urine in the kidneys (hydronephrosis).

In some cases, individuals with Johanson-Blizzard Syndrome may have additional physical abnormalities such as unusually small, underdeveloped nipples, reversal of the normal position of certain organs within the chest and abdomen (situs inversus), and/or an abnormally high susceptibility to repeated respiratory infections. Approximately 15 percent of affected individuals may also demonstrate congenital heart (cardiac) abnormalities, which may include defects of the fibrous partition (septum) separating the upper (atrial) or lower (ventricular) chambers of the heart (atrial septal defects [ASDs] or ventricular septal defects [VSDs]).

The symptoms associated with VSDs or ASDs vary from case to case, depending upon the size and location of such septal defects. Small ventricular septal defects may close on their own (spontaneously) or become less significant as the child matures and grows. Moderately-sized defects may affect the ability of the heart to pump blood efficiently to the lungs and the rest of the body (congestive cardiac failure). Symptoms associated with cardiac failure may include an abnormally rapid rate of breathing (tachypnea), wheezing, unusually fast heartbeat (tachycardia), enlarged liver (hepatomegaly), and/or failure to grow at the expected rate (failure to thrive). Large ventricular septal defects can cause life-threatening complications during infancy. Most children with atrial septal defects exhibit no symptoms. However, in some cases, associated symptoms may include abnormal thinness, mild growth delays, and an increased susceptibility to repeated respiratory infections. In rare cases, severely affected children may experience breathlessness, easy fatigability with exercise, and/or irregular heartbeats (arrhythmias).
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Johanson-Blizzard Syndrome has autosomal recessive inheritance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

In some cases, the parents of affected individuals have been closely related by blood (consanguineous). In disorders that are inherited as autosomal recessive genetic traits, if both parents carry the same disease gene, there is a higher than normal risk that their children may inherit the two genes necessary for the development of the disease.
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Johanson-Blizzard Syndrome affects males and females in equal numbers. Approximately 30 cases have been reported in the medical literature, including several affected individuals within certain families (kindreds). In several reported cases, affected family members have been siblings.

Some of the symptoms of the following disorders may be similar to those seen in Johanson-Blizzard Syndrome. Comparisons may be useful for a differential diagnosis:

Seckel Syndrome is an extremely rare inherited disorder characterized by growth delays prior to birth (intrauterine growth retardation) resulting in low birth weight. Growth delays continue after birth (postnatal) resulting in short stature (dwarfism). Other symptoms and physical features associated with the disorder include an abnormally small head (microcephaly); varying degrees of mental retardation; and/or unusual, distinctive facial features including "beak-like" protrusion of the nose. Other facial features may include abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw (micrognathism). In addition, some affected infants may exhibit permanent fixation of the fifth fingers in a bent position (clinodactyly), malformation (dysplasia) of the hips, and/or dislocation of a bone in the forearm (radial dislocation). Seckel Syndrome has autosomal recessive inheritance. (For more information on this disorder, choose "Seckel" as your search term in the Rare Disease Database.)

Trichorhinophalangeal Syndrome (TRPS) Types I, II, and III are extremely rare inherited multisystem disorders. The different types of Trichorhinophalangeal Syndrome share many of the same symptoms and physical characteristics. For example, these disorders tend to be characterized by thin, sparse scalp hair; distinctive facial abnormalities, including a rounded (bulbous) "pear-shaped" nose, an abnormally small jaw (micrognathia), and/or dental abnormalities; abnormally short and angulated fingers (brachydactyly); and/or short stature. More specifically, individuals with Trichorhinophalangeal Type II may also have additional characteristic abnormalities such as an abnormally small head (microcephaly), multiple bony growths on various bones of the body (exostoses), and/or, in some cases, mental retardation. In individuals with TRPS Type III, the shortness of the fingers and toes is markedly more severe than in TRPS1 and TRPS2. The Trichorhinophalangeal Syndromes have autosomal dominant inheritance. (For more information on these disorders, choose "Trichorhinophalangeal" as your search term in the Rare Disease Database.)

In addition to the Trichorhinophalangeal Syndromes (discussed above), there are several additional disorders belonging to the group of rare diseases known as the Ectodermal Dysplasias (ED) that may be characterized by craniofacial, dental, skeletal, and/or skin abnormalities similar to those associated with Johanson-Blizzard Syndrome. For example, a number of other ED disorders may specifically be characterized by nasal alae hypoplasia, thin, sparse scalp hair, dental defects, short stature, and/or other abnormalities similar to those associated with Johanson-Blizzard Syndrome. (For more information on these disorders, choose "Ectodermal Dysplasia" or the exact disease name in question as your search term in the Rare Disease Database.)

There are additional disorders that may be characterized by nasal alae hypoplasia, scalp defects, hearing loss, short stature, mental retardation, and/or craniofacial, genitourinary, and/or cardiac defects similar to those associated with Johanson-Blizzard Syndrome. (For more information on such disorders, choose the exact disease name in question as your search term in the Rare Disease Database.)

The following disorders may be characterized by exocrine pancreatic insufficiency, malabsorption, and associated abnormalities also characteristic of Johanson-Blizzard Syndrome:

Shwachman Syndrome is an extremely rare inherited disorder characterized by insufficient absorption (malabsorption) of necessary nutrients due to abnormal development of the pancreas (exocrine pancreatic insufficiency); abnormal bone changes that may affect the rib cage and/or bones in the arms and/or legs (metaphyseal dysostosis); short stature; improper functioning of the bone marrow, resulting in a reduced number of certain blood cells and increased susceptibility to infections; and/or other physical and/or developmental abnormalities. The range and severity of symptoms may vary greatly from case to case. Shwachman Syndrome has autosomal recessive inheritance. (For more information on this disorder, choose "Shwachman" as your search term in the Rare Disease Database.)

Cystic Fibrosis, one of the most common rare inherited disorders, affects many exocrine ("outward-secreting") glands of the body, including the sweat glands, salivary glands, and those within the pancreas and respiratory system. In individuals with the disorder, glands within the lining of tubular air passages (bronchi) in the lungs produce unusually thick, sticky secretions of mucus, clogging and obstructing the air passages. In addition, the pancreas lacks the sufficient amount of digestive enzymes required to break down food and absorb fats and nutrients properly (exocrine pancreatic insufficiency). The sweat and salivary glands may also function abnormally. Cystic Fibrosis may be characterized by failure to thrive; intestinal blockage (meconium ileus); loose, foul smelling stools that contain an excessive amount of fat (steatorrhea); chronic cough; an increased susceptibility to repeated lung infections; and/or abnormally salty sweat. Cystic Fibrosis is inherited as an autosomal recessive genetic trait. (For more information on this disorder, choose "Cystic Fibrosis" as your search term in the Rare Disease Database.)

McKusick Type Metaphyseal Chondrodysplasia is a rare inherited disorder characterized by progressive, short-limbed dwarfism due to abnormal development of the cartilage at the ends of long bones; hair that is abnormally fine and sparse (i.e., eyelashes, eyebrows, and scalp hair); and/or impairment of certain cells (T-cells) that play an important role in helping the body's immune system fight infection (cellular immunodeficiency). Affected individuals may also exhibit improper intestinal absorption of necessary nutrients (malabsorption); a chronic decrease in certain white blood cells (neutropenia and lymphopenia); low levels of circulating red blood cells (anemia); dental abnormalities; and other symptoms. Symptoms may vary from case to case. McKusick Type Metaphyseal Chondrodysplasia has autosomal recessive inheritance. (For more information on this disorder, choose "McKusick Type Metaphyseal Chondrodysplasia" as your search term in the Rare Disease Database.)
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Diagnosis
Johanson-Blizzard Syndrome may be diagnosed at birth or during early childhood based upon a thorough clinical evaluation, characteristic physical findings (e.g., low birth weight and size, distinctive "beak-like" nose, unusual hair pattern, signs of exocrine pancreatic insufficiency and malabsorption, anal and genitourinary abnormalities, etc.), and specialized tests.

In some cases, diagnostic studies may include laboratory tests that measure the levels of sodium and chloride excreted from the sweat glands (sweat test). This test plays an essential role in confirming the diagnosis of Cystic Fibrosis, a disorder that is also characterized by exocrine pancreatic insufficiency. However, while individuals with Johanson-Blizzard Syndrome and Cystic Fibrosis may exhibit certain similar symptoms (e.g., steatorrhea and other findings associated with pancreatic insufficiency and malabsorption), individuals with Johanson-Blizzard Syndrome have normal levels of electrolytes in their sweat, while those with Cystic Fibrosis have abnormally elevated concentrations of sodium and chloride. (For more information on Cystic Fibrosis, see the "Related Disorders" section above.)

Various specialized tests may be conducted to help confirm exocrine pancreatic insufficiency and resulting malabsorption. Pancreatic abnormalities, such as fatty infiltration, may be demonstrated by computerized tomography (CT) scanning, abdominal ultrasound, and/or magnetic resonance imaging (MRI). During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of an organ's tissue structure. In ultrasonography, reflected sound waves create an image of the organs in question. MRI uses a magnetic field and radio waves to create cross-sectional images of the organ.

Laboratory tests that help to assess pancreatic function may include stool tests, blood tests, and/or analysis of secretions from the pancreas that are released into the duodenum. (The duodenum is the first portion of the small intestine.) Such laboratory tests may reveal abnormally bulky, loose stools that contain an excessive amount of fat (steatorrhea) and other nutrients; abnormally low levels of iron, the oxygen-carrying portion of the red blood cells (hemoglobin), calcium (hypocalcemia), and protein (hypoproteinemia) in the blood; and signs of deficient activity of certain digestive enzymes normally produced by the pancreatic acinar cells (i.e., absence of lipase, chymotrypsin, amylase, carboxypeptidase, and trypsin activities).

Additional specialized tests may also be conducted to confirm specific pancreatic enzyme deficiencies. In addition, in cases where hypothyroidism is suspected, laboratory tests may also be performed to confirm the presence of abnormally low levels of thyroid hormones in the blood. Specialized imaging studies and/or other tests may also be conducted to detect and/or confirm the degree of certain craniofacial, dental, inner ear, skeletal, genitourinary, cardiac, and/or other abnormalities that may occur in association with the disorder.

For example, congenital heart defects that may occur in association with Johanson-Blizzard Syndrome (e.g., ventricular or atrial septal defects) may be detected and/or confirmed by a thorough clinical examination and specialized tests that allow physicians to evaluate the structure and function of the heart. These tests may include x-ray studies, electrocardiogram (EKG), echocardiogram, and cardiac catheterization. X-ray studies may reveal abnormal enlargement of the heart (cardiomegaly) or malformation of other heart structures. An EKG, which records the heart's electrical impulses, may reveal abnormal electrical patterns. During an echocardiogram, ultrasonic waves are directed toward the heart, enabling physicians to study cardiac function and motion. During cardiac catheterization, a small hollow tube (catheter) is inserted into a large vein and threaded through the blood vessels leading to the heart. This procedure allows physicians to determine the rate of blood flow through the heart, measure the pressure within the heart, and/or thoroughly identify anatomical abnormalities.

According to the medical literature, at least one case of Johanson-Blizzard syndrome was diagnosed before birth (prenatally) through ultrasonographic identification of undeveloped (aplastic) alae nasi and dilated sigmoid colon.

Treatment
The treatment of Johanson-Blizzard Syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists who may need to systematically and comprehensively plan an affected child's treatment. Such specialists may include pediatricians, physicians who specialize in disorders of the endocrine glands (endocrinologists), physicians who diagnose and treat disorders of the digestive system (gastroenterologists), cardiologists, surgeons, dental specialists, specialists who assess and treat hearing problems (audiologists), speech pathologists, dietitians, and others.

Specific therapies for the treatment of Johanson-Blizzard Syndrome are symptomatic and supportive. Affected individuals with pancreatic insufficiency may require pancreatic enzyme supplements (e.g., oral pancreatin) to promote proper absorption of fats and other necessary nutrients. In many cases, vitamin supplements (e.g., fat-soluble vitamins A, D, E, K) may also be prescribed to prevent or treat vitamin deficiencies that may result from malabsorption due to pancreatic insufficiency. A special diet with easily-absorbed, high-protein supplements (protein hydrolysate diet) may also be prescribed to ensure that an affected individual's total nutritional requirements are met. Although such therapies should lead to improved absorption of nutrients and acceptable weight gain, it is important to note that most affected children will remain smaller and shorter than average for their ages (since short stature appears to be one of the many primary manifestations of Johanson-Blizzard Syndrome). Individuals with hypothyroidism may require thyroxine hormone replacement therapy. Such hormone therapy may be carefully monitored and adjusted due to the malabsorption associated with Johanson-Blizzard Syndrome.

In some cases, other abnormalities potentially associated with Johanson-Blizzard Syndrome may be corrected surgically. These may include certain craniofacial, genitourinary, cardiac, and/or other malformations potentially associated with the disorder. For example, in some cases, absent or underdeveloped nostrils may be surgically reconstructed. Depending upon the severity of anal abnormalities (imperforate anus or anal stenosis), surgery may be conducted to surgically correct or reconstruct the anus (anoplasty) and/or to create an opening between the colon and the surface of the body (colostomy) to allow passage of bowel contents. Surgery may also be conducted to correct certain genitourinary and/or cardiac abnormalities. The surgical procedures performed will depend upon the location and severity of the anatomical abnormalities and their associated symptoms.

The dental abnormalities occurring in association with Johanson-Blizzard Syndrome may be treated through bonding agents, use of dentures, and/or other supportive techniques. Hearing loss associated with some cases of Johanson-Blizzard syndrome may be treated with hearing aids.

Early intervention is important to ensure that children with Johanson-Blizzard Syndrome reach their potential. Special services that may be beneficial to affected children may include special remedial education, special social support, and other medical, social, and/or vocational services. Genetic counseling will be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive.
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McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 243800; Last Update:1/25/02 .

TEXTBOOKS
Buyce ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:994.

Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W. B. Saunders Co: 1997:106-07.

Gorlin RJ, et al., eds. Syndromes of the Head and Neck, 3rd ed. New York, NY: Oxford University Press; 1990:812-13.

Yamada T, et al., eds. Textbook of Gastroenterology. 2nd ed. Philadelphia, PA: J.B. Lippincott Company; 1995:2169.

Champion RH, et al., eds. Textbook of Dermatology. 5th ed. Cambridge, MA: Blackwell Scientific Publications; 1992:345.

REVIEW ARTICLES
Iwasaki K, Johanson-Blizzard syndrome. Ryoikibetsu Shokogun Shirizu. 2001;34:24-25.

Gershoni-Baruch R, et al. Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome. Am J Med Genet. 1990;35:546-51.

Zerres K, et al. The Johanson-Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature. Clin Genet. 1986;30:177-83.

JOURNAL ARTICLES
Prater JF, et al. Johanson-Blizzard syndrome - a case study, behavioral manifestations, and successful treatment strategies. Biol Psychiatry. 2002;15:515-17.

Alpay F, et al. Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome. Pediatr Cardiol. 2000;21:389-90.

Auslander R, et al. Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis. Ultrasound Obstet Gynecol. 1999;13:450-52.

Rosanowski F, et al. Johanson-Blizzard syndrome. A complex dysplasia syndrome with aplasia of the nasal ale and inner ear deafness. HNO. 1998;46:876-78.

Jones NL, et al. Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. J Pediatr. 1994;125:406-08.

Nagashima K, et al. A case of Johanson-Blizzard syndrome complicated by diabetes mellitus. Clin Genet. 1993;43:98-100.

Swanenburg de Veye HF, et al. A child of high intelligence with the Johanson-Blizzard syndrome. Genet Couns. 1991;2:21-25.

Trellis DR, et al. Johanson-Blizzard syndrome. Progression of pancreatic involvement in adulthood. Dig Dis Sci. 1991;36:365-69.

Rudnik-Schoneborn S, et al, Johanson-Blizzard syndrome. Klin Padiatr. 1991;203:33-38.

Braun J, et al. The temporal bone in the Johanson-Blizzard syndrome. A CT study. Pediatr Radiol. 1991;21:580-83.

Sandhu BK, et al. Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome. J Pediatr Gastroenterol Nutr. 1989;9:535-38.

Gould NS, et al. Johanson-Blizzard syndrome: clinical and pathological findings in 2 sibs. Am J Med Genet. 1989;33:194-99.

Moeschler JB, et al. Johanson-Blizzard syndrome with normal intelligence. Am J Med Genet. 1985;22:69-73.

Motohashi N, et al. Roentgencephalometric analysis of craniofacial growth in the Johanson-Blizzard syndrome. Craniofac Genet Dev Biol. 1981;1:57-72.

Mardini MK, et al. Johanson-Blizzard syndrome in a large inbred kindred with three involved members. Clin Genet. 1978;14:247-50.