𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Immunodeficiency associated with Dandy-Walker-like malformation, congenital heart defect, and craniofacial abnormalities

✍ Scribed by Lauener, Roger ;Seger, Reinhard ;Jörg, Walter ;Hallé, Françoise ;Aeppli, Regula ;Schinzel, Albert

Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
115 KB
Volume
33
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

New lethal skeletal dysplasia with Dandy
New lethal skeletal dysplasia with Dandy–Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies
✍ Cathy A. Stevens; Ralph S. Lachman 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 264 KB 👁 1 views

## Abstract We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absence of talus and calcaneus ossification. Other clinical features include Dandy–Walker malformation

Interstitial deletion of 8q21→22 associa
Interstitial deletion of 8q21→22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant
✍ Donahue, Margaret L. ;Ryan, Rita M. 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 370 KB 👁 1 views

W e describe an infant with a deletion of 8q21+22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy-Walker variant, and mild to moderate developmental delay. Her facial characteristics included small, wide-spaced eyes, asymmetric bilateral

Agenesis of tibia with ectrodactyly/Goll
Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities
✍ Raas-Rothschild, A.; Nir, A.; Ergaz, Z.; Bar Ziv, J.; Rein, A.J.J.T. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral club feet, congenital heart defects, and segmentation anomalies of the spine and ribs. Parents are consanguineous, from a region where other consanguineous families with similarly affected individuals have been repor

Distal 8p deletion (8)(p23.1): An easily
Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation
✍ Wu, Bai-Lin; Schneider, Gretchen H.; Sabatino, Denise E.; Bozovic, Ljiljana Z.; 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB

We describe the clinical manifestations and molecular cytogenetic analyses of three patients with a similar distal deletion of chromosome 8. Each child had mild developmental delay and subtle minor anomalies. Two had cardiac anomalies but no other major congenital anomalies were present. High resolu