Premium
Craniomicromelic syndrome: First report in a male
Author(s) -
Gambhir Prakash S.,
Gambhir Sunita
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33451
Subject(s) - microstomia , palpebral fissure , anatomy , medicine , nose , thorax (insect anatomy) , surgery
We report on craniomicromelic syndrome in a male fetus. This case had the previously reported features of prenatal onset growth retardation, underossified cranial bones, wide sutures and fontanels, small face as compared to head, small palpebral fissures, pinched nose, microstomia, micrognathia, and narrow thorax. The consistent combination of these features with short appearing limbs as observed in this case establishes this syndrome as a distinct entity. © 2011 Wiley‐Liss, Inc.