Table 1.

Clinical features of Johanson-Blizzard syndrome

Exocrine pancreatic insufficiency[1,3-5]

Hypoplasia/aplasia of alae nasi[1,4,6-8]

Scalp defect /aplasia cutis[1,6,8]

Sensory neural hearing loss[1,3,8,9]

Bilateral cystic dilation of cochlea, low set ears, and temporal bone defect[10]

Growth retardation, short stature[1,11]

Dental anomalies: oligodontia and absence of permanent teeth[1,6,7,11]

Anorectal anomalies: imperforate anus[4,11,12]

Hypotonia, microcephaly, and mental retardation sometimes normal intelligence[3,7,11]

lacrimal duct anomalies, coloboma of the lids, superior puncta absence, lacrimal cutaneous fistula, and congenital cataract[13]

Abnormal frontal hair pattern (upsweep)[7]

Vesicoureteric reflux, hypospadia, and duplex of uterine and vagina[8]

Congenital heart diseases such as myxomatous mitral valve, PDA, VSD, ASD, dextrocardia, complex congenital heart disease, and cardiomyopathy[13,14]

Cholestatic liver disease (one case)[15]

Café au lait spots[16]

Hypothyroidism[1]

Growth hormone deficiency[5]

Hypopituitarism[17]

Impaired glucagon secretion response to insulin induced hypoglycemia[18]

Diabetes mellitus[19,20]

Italic letters show common features. PDA: Patent ductus arteriosus; VSD: Ventricular septal defect; ASD: Atrial septal defect.