𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Parental consanguinity in two sibs with omodysplasia

✍ Scribed by Baxová, A. ;Maroteaux, P. ;Barošová, J. ;Netriová, I.

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
265 KB
Volume
49
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Karsch-Neugebauer syndrome in two sibs w
Karsch-Neugebauer syndrome in two sibs with unaffected parents
✍ Wong, S.C. ;Cobben, J.M. ;Hiemstra, S. ;Robinson, P.H. ;Heeg, M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

We report on 2 sisters with Karsch-Neugebauer syndrome comprising split foot and split hand anomalies in association with congenital nystagmus. These sisters share a nearly identical phenotype with the 8 previously reported instances of this disorder. Although genetic heterogeneity can not be formal

Ophthalmological, skeletal, and cardiac
Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: A new syndrome?
✍ dos Santos, Rita de Cassia Stocco ;Castro, Nelson H. C. ;Ferraz, Oilita Pereira 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 294 KB 👁 2 views

We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of auto-so

Acrocallosal syndrome in two African bro
Acrocallosal syndrome in two African brothers born to consanguineous parents
✍ Christianson, Arnold L. ;Venter, Philip A. ;Du Toit, Joan L. ;Shipalana, Nancy ; 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 465 KB 👁 2 views

W e describe two mentally retarded brothers with craniofacial anomalies, polydactyly, and other clinical manifestations compatible with the acrocallosal syndrome (ACS). These are the first black patients from Africa with this diagnosis. They are also the fourth set of sibs described with ACS, and to

Camptodactyly, myopia, and fibrosis of t
Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: Autosomal recessive entity?
✍ Kilic, ?lknur; Kilic, B. Alper; Ergin, Hacer; Ayg�n, Meral G�nay; Aksit, M. Arif 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 2 views

Unaffected but consanguineous parents suggest autosomal recessive inheritance of a previously apparently undescribed syndrome of camptodactyly, fibrosis of the medial rectus muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis in a 13-year-old Turkish girl and h