Otopalatodigital syndrome type II associated with omphalocele: Report of three cases

K. Young, C. K. Barth, C. Moore, David Weaver

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

We present 3 patients with otopalatodigital (OPD) syndrome type II and omphalocele; 2 of the cases are brothers. There are now 6 known cases of OPD type I or II with omphalocele. We propose that this combination is not coincidental and discuss mechanisms that may result in the combination of OPD, omphalocele, and other midline defects.

Original languageEnglish
Pages (from-to)481-487
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume45
Issue number4
DOIs
StatePublished - 1993

Fingerprint

Umbilical Hernia
Siblings
Type 2 Oto-palato-digital syndrome

Keywords

  • midline defect
  • omphalocele
  • prenatal diagnosis
  • skeletal dysplasia
  • X-linked recessive

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Otopalatodigital syndrome type II associated with omphalocele : Report of three cases. / Young, K.; Barth, C. K.; Moore, C.; Weaver, David.

In: American Journal of Medical Genetics, Vol. 45, No. 4, 1993, p. 481-487.

Research output: Contribution to journalArticle

@article{96ee2eb70dc14b4da150c512f0d14fa2,
title = "Otopalatodigital syndrome type II associated with omphalocele: Report of three cases",
abstract = "We present 3 patients with otopalatodigital (OPD) syndrome type II and omphalocele; 2 of the cases are brothers. There are now 6 known cases of OPD type I or II with omphalocele. We propose that this combination is not coincidental and discuss mechanisms that may result in the combination of OPD, omphalocele, and other midline defects.",
keywords = "midline defect, omphalocele, prenatal diagnosis, skeletal dysplasia, X-linked recessive",
author = "K. Young and Barth, {C. K.} and C. Moore and David Weaver",
year = "1993",
doi = "10.1002/ajmg.1320450418",
language = "English",
volume = "45",
pages = "481--487",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Otopalatodigital syndrome type II associated with omphalocele

T2 - Report of three cases

AU - Young, K.

AU - Barth, C. K.

AU - Moore, C.

AU - Weaver, David

PY - 1993

Y1 - 1993

N2 - We present 3 patients with otopalatodigital (OPD) syndrome type II and omphalocele; 2 of the cases are brothers. There are now 6 known cases of OPD type I or II with omphalocele. We propose that this combination is not coincidental and discuss mechanisms that may result in the combination of OPD, omphalocele, and other midline defects.

AB - We present 3 patients with otopalatodigital (OPD) syndrome type II and omphalocele; 2 of the cases are brothers. There are now 6 known cases of OPD type I or II with omphalocele. We propose that this combination is not coincidental and discuss mechanisms that may result in the combination of OPD, omphalocele, and other midline defects.

KW - midline defect

KW - omphalocele

KW - prenatal diagnosis

KW - skeletal dysplasia

KW - X-linked recessive

UR - http://www.scopus.com/inward/record.url?scp=0027475224&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027475224&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320450418

DO - 10.1002/ajmg.1320450418

M3 - Article

C2 - 8465856

AN - SCOPUS:0027475224

VL - 45

SP - 481

EP - 487

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4825

IS - 4

ER -