Steinfeld syndrome: Report of a second family and further delineation of a rare autosomal dominant disorder

✍ Scribed by Nöthen, Markus M. ;Knöpfle, Gisela ;Födisch, Hans-Jörg ;Zerres, Klaus

• Publisher: John Wiley and Sons
• Year: 1993
• Tongue: English
• Weight: 397 KB
• Volume: 46
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320460426

✦ Synopsis

We report on a fetus with alobar holoprosencephaly, microphthalmia, midline cleft lip a n d palate, absent nose, dysplastic ears, radial defects, pentalogy of Fallot, unilateral renal aplasia, absent gallbladder, vertebral anomalies, and absence of ribs. The father had a cleft palate, bilateral colobomas of the iris and retina, a bifid uvula, vertebral anomalies, and unilateral congenital hearing loss. His sister had a cleft lip. On the basis of this family and the family reported by Steinfeld [19821, this malformation syndrome can be defined as a rare autosomal dominant syndrome whose main component manifestations are holoprosencephaly, predominantly radial iimb deficiency, heart defects, kidney malformations, absence of gallbladder, and vertebral anomalies.