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Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.
Am J Med Genet. 1988 Jul; 30(3):709-18.AJ

Abstract

We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cleavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomalies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.

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Authors+Show Affiliations

Saal HM
Department of Pediatrics, University of Connecticut School of Medicine, Farmington 06032.
Greenstein RM
No affiliation info available
Weinbaum PJ
No affiliation info available
Poole AE
No affiliation info available

MeSH

Abnormalities, MultipleAnterior ChamberChildFemaleGenes, RecessiveGrowth DisordersHumansHydrocephalusInfantLimb Deformities, CongenitalPhenotypeSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3189394

Citation

Saal, H M., et al. "Autosomal Recessive Robinow-like Syndrome With Anterior Chamber Cleavage Anomalies." American Journal of Medical Genetics, vol. 30, no. 3, 1988, pp. 709-18.
Saal HM, Greenstein RM, Weinbaum PJ, et al. Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies. Am J Med Genet. 1988;30(3):709-18.
Saal, H. M., Greenstein, R. M., Weinbaum, P. J., & Poole, A. E. (1988). Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies. American Journal of Medical Genetics, 30(3), 709-18.
Saal HM, et al. Autosomal Recessive Robinow-like Syndrome With Anterior Chamber Cleavage Anomalies. Am J Med Genet. 1988;30(3):709-18. PubMed PMID: 3189394.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies. AU - Saal,H M, AU - Greenstein,R M, AU - Weinbaum,P J, AU - Poole,A E, PY - 1988/7/1/pubmed PY - 1988/7/1/medline PY - 1988/7/1/entrez SP - 709 EP - 18 JF - American journal of medical genetics JO - Am J Med Genet VL - 30 IS - 3 N2 - We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cleavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomalies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3189394/Autosomal_recessive_Robinow_like_syndrome_with_anterior_chamber_cleavage_anomalies_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1988&volume=30&issue=3&spage=709 DB - PRIME DP - Unbound Medicine ER -