LETHAL MULTIPLE PTERYGIUM SYNDROME - SUGGESTION FOR A CONSISTENT PATHOLOGICAL WORK-UP AND REVIEW OF REPORTED CASES

Authors
FROSTER UG STALLMACH T WISSER J HEBISCH G ROBBIANI MB HUCH R HUCH A
Citation
Ug. Froster et al., LETHAL MULTIPLE PTERYGIUM SYNDROME - SUGGESTION FOR A CONSISTENT PATHOLOGICAL WORK-UP AND REVIEW OF REPORTED CASES, American journal of medical genetics, 68(1), 1997, pp. 82-85
Citations number
8
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
68
Issue
1
Year of publication
1997
Pages
82 - 85
Database
ISI
SICI code
0148-7299(1997)68:1<82:LMPS-S>2.0.ZU;2-G
Abstract
We report on 2 brothers with lethal multiple pterygium syndrome (LMPS) born to nonconsanguineous parents as late spontaneous abortions, Both fetuses presented with massive nuchal edema, and facial anomalies inc luding cleft palate and broad ribs, Apparently, several subgroups of L MPS exist, Differentiation is difficult, as there is no consistent agr eement on a workup protocol for autopsies, We compared the findings in the literature on cases with LMPS, and we suggest a standardized work up as an initial step for more efficient differentiation between vario us subgroups. (C) 1997 Wiley-Liss, Inc.