𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Steinfeld syndrome: Further delineation

✍ Scribed by Cathy A. Stevens

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
121 KB
Volume
152A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Steinfeld syndrome, which was first reported in 1982, is characterized by holoprosencephaly, phocomelia, clefting, congenital heart defects, and other anomalies. There have been two additional reports since then. This report describes a fetus with clinical features consistent with Steinfeld syndrome and it is the first patient with this condition to have extensive genetic evaluation. This appears to be an autosomal dominant syndrome with widely variable expression. The clinical features of this syndrome are reviewed. © 2010 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Kapur–Toriello syndrome: Further delinea
Kapur–Toriello syndrome: Further delineation
✍ Emiy Yokoyama; Angélica Martínez; Ariadna González-del Angel 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB 👁 2 views
Further delineation of Costello syndrome
Further delineation of Costello syndrome
✍ Teebi, Ahmad S. ;Shaabani, Issa S. 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 272 KB 👁 2 views

We report on a 6-year-old girl with Costello syndrome. Main manifestations included poor postnatal growth, relative macrocephaly, curly hair, distinct "coarse" face, mild mental retardation, happy and sociable personality, loose dark skin particularly of hands and feet, acanthosis nigricans, thin de

Pitt-Rogers-Danks syndrome: Further deli
Pitt-Rogers-Danks syndrome: Further delineation
✍ Lizcano-Gil, Luis A. ;García-Cruz, Diana ;García-Cruz, Olga ;Sánchez-Corona, Jos 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 227 KB 👁 1 views
Steinfeld syndrome: Report of a second f
Steinfeld syndrome: Report of a second family and further delineation of a rare autosomal dominant disorder
✍ Nöthen, Markus M. ;Knöpfle, Gisela ;Födisch, Hans-Jörg ;Zerres, Klaus 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 397 KB 👁 1 views

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 colo

Further delineation of cerebro-osteo-nep
Further delineation of cerebro-osteo-nephrosis syndrome
✍ Udler, Yevgenia; Halpern, Gabrielle J.; Sher, Carron; Davidovitz, Miriam; Shohat 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 3 views

We describe an Israeli Jewish child of Yemenite origin who may be affected with ''cerebro-osteo-nephrosis.'' She is short of stature (height below 3rd centile) due to skeletal abnormalities. She has minor anomalies and borderline intelligence. There is marked proteinuria and she is in kidney failure