Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.Am J Med Genet. 1990 Sep; 37(1):133-5.AJ
Abstract
We report on 2 sibs, a male and a female, who died shortly after birth from respiratory failure. They combined growth retardation with a Potter-like face, complete phocomelia of the upper limbs, rib anomalies (mainly severe hypoplasia of the 6 upper ribs), renal dysplasia, and external genital abnormalities. We hypothesize that these cases represent evidence for the existence of the "new syndrome" described by Ulbright et al. (Am J Med Genet 17:667-668, 1984). This syndrome appears lethal because of the severe renal dysplasia that causes oligohydramnios and pulmonary hypoplasia. Its mode of inheritance seems to be autosomal recessive.
Links
MeSH
Pub Type(s)
Case Reports
Journal Article
Language
eng
PubMed ID
2240030
Citation
Schrander-Stumpel, C, et al. "Limb Reduction Defects and Renal Dysplasia: Confirmation of a New, Apparently Lethal, Autosomal Recessive MCA Syndrome." American Journal of Medical Genetics, vol. 37, no. 1, 1990, pp. 133-5.
Schrander-Stumpel C, de Die-Smulders C, Fryns JP, et al. Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome. Am J Med Genet. 1990;37(1):133-5.
Schrander-Stumpel, C., de Die-Smulders, C., Fryns, J. P., da Costa, J., & Bouckaert, P. (1990). Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome. American Journal of Medical Genetics, 37(1), 133-5.
Schrander-Stumpel C, et al. Limb Reduction Defects and Renal Dysplasia: Confirmation of a New, Apparently Lethal, Autosomal Recessive MCA Syndrome. Am J Med Genet. 1990;37(1):133-5. PubMed PMID: 2240030.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.
AU - Schrander-Stumpel,C,
AU - de Die-Smulders,C,
AU - Fryns,J P,
AU - da Costa,J,
AU - Bouckaert,P,
PY - 1990/9/1/pubmed
PY - 1990/9/1/medline
PY - 1990/9/1/entrez
SP - 133
EP - 5
JF - American journal of medical genetics
JO - Am J Med Genet
VL - 37
IS - 1
N2 - We report on 2 sibs, a male and a female, who died shortly after birth from respiratory failure. They combined growth retardation with a Potter-like face, complete phocomelia of the upper limbs, rib anomalies (mainly severe hypoplasia of the 6 upper ribs), renal dysplasia, and external genital abnormalities. We hypothesize that these cases represent evidence for the existence of the "new syndrome" described by Ulbright et al. (Am J Med Genet 17:667-668, 1984). This syndrome appears lethal because of the severe renal dysplasia that causes oligohydramnios and pulmonary hypoplasia. Its mode of inheritance seems to be autosomal recessive.
SN - 0148-7299
UR - https://www.unboundmedicine.com/medline/citation/2240030/Limb_reduction_defects_and_renal_dysplasia:_confirmation_of_a_new_apparently_lethal_autosomal_recessive_MCA_syndrome_
L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=37&issue=1&spage=133
DB - PRIME
DP - Unbound Medicine
ER -