✦ LIBER ✦

Acrocallosal syndrome in two African brothers born to consanguineous parents

✍ Scribed by Christianson, Arnold L. ;Venter, Philip A. ;Du Toit, Joan L. ;Shipalana, Nancy ;Gericke, George S.

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 465 KB
Volume: 51
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320510204

No coin nor oath required. For personal study only.

✦ Synopsis

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 together with the parental consanguinity documented in this family, confirm autoso-ma1 recessive inheritance of this syndrome. The clinical manifestations in our patients confirm the intrafamilial variability of the syndrome. Postnatal onset of growth retardation is proposed as an additional manifestation of ACS. o 1994 Wiley-Liss, Inc.

📜 SIMILAR VOLUMES

Acrocallosal syndrome in a girl born to

Acrocallosal syndrome in a girl born to consanguineous parents

✍ Salgado, Leonardo J. ;Ali, Carlos A. ;Castilla, Eduardo E. 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 256 KB 👁 2 views

Aarskog syndrome in a brazilian boy born

Aarskog syndrome in a brazilian boy born to consanguineous parents

✍ Guion-Almeida, M. L. ;Richieri-Costa, A. 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 279 KB 👁 1 views

Michels syndrome in a Brazilian girl bor

Michels syndrome in a Brazilian girl born to consanguineous parents

✍ Guion-Almeida, M. L. ;Rodini, E. S. O. 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 276 KB 👁 2 views

Acrocallosal syndrome in Algerian boy bo

Acrocallosal syndrome in Algerian boy born to consanguineous parents: Review of the literature and further delineation of the syndrome

✍ Courtens, W.; Vamos, E.; Christophe, C.; Schinzel, A. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 239 KB 👁 1 views

We present a 17-month-old boy with the acrocallosal syndrome. He was born to consanguineous parents. Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle,

Kenny-Caffey syndrome in two sibs born t

Kenny-Caffey syndrome in two sibs born to consanguineous parents: Evidence for an autosomal recessive variant

✍ Franceschini, P. ;Testa, A. ;Bogetti, G. ;Girardo, E. ;Guala, A. ;Lopez-Bell, G. 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 451 KB 👁 2 views

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 👁 1 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