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References (13)
-
C. Ross (1969)
Generalized folded skin with an underlying lipomatous nevus. "The Michelin Tire baby".Archives of dermatology, 100 3
-
MM Cohen, RJ Gorlin, R Clark, SG Ewing, PR Camfield (1993)
Multiple circumferential skin folds and other anomalies: A problem in syndrome delineation, 2
-
N Niikawa, S Ishikiriyzma, T Shikimani (1985)
The Michelin tire baby syndrome–an autosomal dominant trait (Letter), 22
-
M Lubinsky (1983)
Familial amniotic bands (Letter), 102
-
P. Etches, P. Etches, A. Stewart, A. Stewart, E. Ives, E. Ives (1982)
Familial congenital amputations.The Journal of pediatrics, 101 3
-
J Kunze, H Riehm (1982)
A new genetic disorder: Autosomal‐dominant multiple benign ring‐shaped skin creases, 138
-
Norio Niikawa, S. Ishikiriyama, T. Shikimani, J. Opitz, J. Reynolds (1985)
The "Michelin tire baby syndrome": an autosomal dominant trait.American Journal of Medical Genetics, 22
-
E. Gardner, H. Miller, E. Lowney (1979)
Folded skin associated with underlying nevus lipomatosus.Archives of dermatology, 115 8
-
SS Gellis (1977)
Constrictive bands in the human, XIII
-
M. Lubinsky, E. Sujansky, Warren Sanger, Phyllis Salyards, C. Severn, J. Herrmann (1983)
Familial amniotic bands.American journal of medical genetics, 14 1
-
H. Keller, G. Neuhäuser, G. Neuhäuser, M. Durkin-Stamm, E. Kaveggia, A. Schaaff, F. Sitzmann, Lewis Holmes (1978)
"ADAM complex" (amniotic deformity, adhesions, mutilations)--a pattern of craniofacial and limb defects.American journal of medical genetics, 2 1
-
H. Bass, Sibylle Caldwell, Barry Brooks (1993)
Michelin tire baby syndrome: familial constriction bands during infancy and early childhood in four generations.American journal of medical genetics, 45 3
-
M. Lubinsky (1983)
Familial amniotic bands.The Journal of pediatrics, 102 2
- Publisher
- Wiley
- Copyright
- Copyright © 1996 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/(SICI)1096-8628(19960301)62:1<23::AID-AJMG5>3.0.CO;2-X
- pmid
- 8779319
- Publisher site
- See Article on Publisher Site
Abstract
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.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 1996
Keywords: ; ;