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Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.
Am J Med Genet. 1990 Sep; 37(1):119-23.AJ

Abstract

We report on an Arabic sibship originating from Morocco in which four children manifest an undiagnosed sublethal multiple congenital anomaly/mental retardation (MCA/MR) syndrome of intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, flat face, unusual hooked nose, very narrow mouth, retrognathia, and extremely severe neurologic impairment. One child was stillborn. Three others died in a cachectic state during their second year. One child had a severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations are anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. Autosomal recessive inheritance is likely.

Authors+Show Affiliations

Center for Human Genetics, Hôpital du Sart Tilman, Liège State University, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2240028

Citation

Verloes, A, et al. "Lambotte Syndrome: Microcephaly, Holoprosencephaly, Intrauterine Growth Retardation, Facial Anomalies, and Early Lethality--a New Sublethal Multiple Congenital Anomaly/mental Retardation Syndrome in Four Sibs." American Journal of Medical Genetics, vol. 37, no. 1, 1990, pp. 119-23.
Verloes A, Dodinval P, Beco L, et al. Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs. Am J Med Genet. 1990;37(1):119-23.
Verloes, A., Dodinval, P., Beco, L., Bonnivert, J., & Lambotte, C. (1990). Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs. American Journal of Medical Genetics, 37(1), 119-23.
Verloes A, et al. Lambotte Syndrome: Microcephaly, Holoprosencephaly, Intrauterine Growth Retardation, Facial Anomalies, and Early Lethality--a New Sublethal Multiple Congenital Anomaly/mental Retardation Syndrome in Four Sibs. Am J Med Genet. 1990;37(1):119-23. PubMed PMID: 2240028.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs. AU - Verloes,A, AU - Dodinval,P, AU - Beco,L, AU - Bonnivert,J, AU - Lambotte,C, PY - 1990/9/1/pubmed PY - 1990/9/1/medline PY - 1990/9/1/entrez SP - 119 EP - 23 JF - American journal of medical genetics JO - Am J Med Genet VL - 37 IS - 1 N2 - We report on an Arabic sibship originating from Morocco in which four children manifest an undiagnosed sublethal multiple congenital anomaly/mental retardation (MCA/MR) syndrome of intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, flat face, unusual hooked nose, very narrow mouth, retrognathia, and extremely severe neurologic impairment. One child was stillborn. Three others died in a cachectic state during their second year. One child had a severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations are anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. Autosomal recessive inheritance is likely. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2240028/Lambotte_syndrome:_microcephaly_holoprosencephaly_intrauterine_growth_retardation_facial_anomalies_and_early_lethality__a_new_sublethal_multiple_congenital_anomaly/mental_retardation_syndrome_in_four_sibs_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=37&issue=1&spage=119 DB - PRIME DP - Unbound Medicine ER -