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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.

Authors+Show Affiliations

Department of Genetics, Academic Hospital Maastricht, State University of Limburg, Maastricht, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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 -