New syndrome?: MCA/MR syndrome with multiple circumferential skin creases
Version of Record online: 6 DEC 1998
Copyright © 1996 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 62, Issue 1, pages 23–25, 1 March 1996
How to Cite
Elliott, A. M., Ludman, M. and Teebi, A. S. (1996), New syndrome?: MCA/MR syndrome with multiple circumferential skin creases. Am. J. Med. Genet., 62: 23–25. doi: 10.1002/(SICI)1096-8628(19960301)62:1<23::AID-AJMG5>3.0.CO;2-X
- Issue online: 6 DEC 1998
- Version of Record online: 6 DEC 1998
- Manuscript Revised: 18 AUG 1995
- Manuscript Received: 16 MAR 1995
- constriction rings;
- amniotic band sequence;
- Smith-Lemli-Opitz syndrome
We describe a combination of multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs in a 4.5-year-old male. Craniofacial anomalies included: a high forehead, elongated face, bitemporal sparseness of hair, broad eyebrows, blepharophimosis, bilateral microphthalmia and microcornea, severe optic nerve hypoplasia, epicanthic folds, telecanthus, broad nasal bridge, puffy cheeks, microstomia, cleft palate, enamel hypoplasia, micrognathia, microtia with stenotic ear canals and posteriorly angulated ears. Head circumference was on the 10th centile and a CT scan showed dilated lateral ventricles. Intracranial pressure was not increased. Other abnormalities included: short stature, loose skin, hypotonia, pectus excavatum, inguinal and umbilical hernias, severe scoliosis, hypoplastic scrotum, long fingers and overlapping toes. Echocardiography showed tricuspid regurgitation. Chromosomes were apparently normal. Differentiation from “Michelin tire baby syndrome” and amniotic band sequence is discussed. © 1996 Wiley-Liss, Inc.