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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.

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Authors+Show Affiliations

Schrander-Stumpel C
Department of Genetics, Academic Hospital Maastricht, State University of Limburg, Maastricht, The Netherlands.
de Die-Smulders C
No affiliation info available
Fryns JP
No affiliation info available
da Costa J
No affiliation info available
Bouckaert P
No affiliation info available

MeSH

Abnormalities, MultipleEctromeliaFaceFemaleFetal Growth RetardationGenes, LethalGenes, RecessiveGenitaliaHumansInfant, NewbornKidneyLimb Deformities, CongenitalMaleSyndrome

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 -