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Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome.
Genet Couns. 1996; 7(4):277-82.GC

Abstract

We report a boy who shows a severe microcephaly, with mild mental retardation and hypotonia, and a dysmorphic facies: (flat profile, arched eyebrows, mild ptosis, short nose with raised basis, large tip and anteverted nares, long, smooth philtrum, narrow mouth with down turned corners, very large, backward tilted ears, with a prominent lobule, retrognathism and very small and widely spaced, although normally shaped teeth. Vesicoureteral reflux was present. The mother showed similar aspect, large ears, and a grinning smile. This appear to represent an undescribed phenotype which share some resemblance to mild Cornelia de Lange and Kabuki syndromes.

Authors+Show Affiliations

Centre for Human Genetics, Liège University, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8985731

Citation

Verloes, A, et al. "Microcephaly, Macrotia, Unusual Mimics and Mental Retardation Syndrome: New Syndrome or Variant of De Lange Type 2 Syndrome." Genetic Counseling (Geneva, Switzerland), vol. 7, no. 4, 1996, pp. 277-82.
Verloes A, Lesenfants S, Philippet B, et al. Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome. Genet Couns. 1996;7(4):277-82.
Verloes, A., Lesenfants, S., Philippet, B., Iyawa, A., Laloux, F., & Koulischer, L. (1996). Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome. Genetic Counseling (Geneva, Switzerland), 7(4), 277-82.
Verloes A, et al. Microcephaly, Macrotia, Unusual Mimics and Mental Retardation Syndrome: New Syndrome or Variant of De Lange Type 2 Syndrome. Genet Couns. 1996;7(4):277-82. PubMed PMID: 8985731.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome. AU - Verloes,A, AU - Lesenfants,S, AU - Philippet,B, AU - Iyawa,A, AU - Laloux,F, AU - Koulischer,L, PY - 1996/1/1/pubmed PY - 1996/1/1/medline PY - 1996/1/1/entrez SP - 277 EP - 82 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 7 IS - 4 N2 - We report a boy who shows a severe microcephaly, with mild mental retardation and hypotonia, and a dysmorphic facies: (flat profile, arched eyebrows, mild ptosis, short nose with raised basis, large tip and anteverted nares, long, smooth philtrum, narrow mouth with down turned corners, very large, backward tilted ears, with a prominent lobule, retrognathism and very small and widely spaced, although normally shaped teeth. Vesicoureteral reflux was present. The mother showed similar aspect, large ears, and a grinning smile. This appear to represent an undescribed phenotype which share some resemblance to mild Cornelia de Lange and Kabuki syndromes. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/8985731/Microcephaly_macrotia_unusual_mimics_and_mental_retardation_syndrome:_new_syndrome_or_variant_of_De_Lange_type_2_syndrome_ L2 - http://www.diseaseinfosearch.org/result/4735 DB - PRIME DP - Unbound Medicine ER -