Tags

Type your tag names separated by a space and hit enter

A familial syndrome with micrognathia, cleft palate, short neck and stature, vertebral anomalies and mental retardation.
Genet Couns. 1993; 4(4):299-303.GC

Abstract

We report on a male adult and his son both affected with hitherto undescribed multiple congenital anomalies and mental retardation. Both have peculiar facies, cleft palate, short sature, congenital brevicollis and vertebral abnormalities. Chromosomal analysis is normal and an autosomal dominant mode of inheritance is most likely. Genetic aspects and clinical manifestations are compared with those of previous reports of Robin sequence or cleft palate, short stature and vertebral dysostosis.

Authors+Show Affiliations

Mathieu M
Centre de Génétique Clinique, Service de Pédiatrie I, Amiens, France.
De Broca A
No affiliation info available
Bony H
No affiliation info available
Piussan C
No affiliation info available

MeSH

Abnormalities, MultipleAdultCervical VertebraeChild, PreschoolCleft PalateFacial AsymmetryHumansIntellectual DisabilityMaleMicrognathismPedigreePhenotype

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8110419

Citation

Mathieu, M, et al. "A Familial Syndrome With Micrognathia, Cleft Palate, Short Neck and Stature, Vertebral Anomalies and Mental Retardation." Genetic Counseling (Geneva, Switzerland), vol. 4, no. 4, 1993, pp. 299-303.
Mathieu M, De Broca A, Bony H, et al. A familial syndrome with micrognathia, cleft palate, short neck and stature, vertebral anomalies and mental retardation. Genet Couns. 1993;4(4):299-303.
Mathieu, M., De Broca, A., Bony, H., & Piussan, C. (1993). A familial syndrome with micrognathia, cleft palate, short neck and stature, vertebral anomalies and mental retardation. Genetic Counseling (Geneva, Switzerland), 4(4), 299-303.
Mathieu M, et al. A Familial Syndrome With Micrognathia, Cleft Palate, Short Neck and Stature, Vertebral Anomalies and Mental Retardation. Genet Couns. 1993;4(4):299-303. PubMed PMID: 8110419.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A familial syndrome with micrognathia, cleft palate, short neck and stature, vertebral anomalies and mental retardation. AU - Mathieu,M, AU - De Broca,A, AU - Bony,H, AU - Piussan,C, PY - 1993/1/1/pubmed PY - 1993/1/1/medline PY - 1993/1/1/entrez SP - 299 EP - 303 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 4 IS - 4 N2 - We report on a male adult and his son both affected with hitherto undescribed multiple congenital anomalies and mental retardation. Both have peculiar facies, cleft palate, short sature, congenital brevicollis and vertebral abnormalities. Chromosomal analysis is normal and an autosomal dominant mode of inheritance is most likely. Genetic aspects and clinical manifestations are compared with those of previous reports of Robin sequence or cleft palate, short stature and vertebral dysostosis. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/8110419/A_familial_syndrome_with_micrognathia_cleft_palate_short_neck_and_stature_vertebral_anomalies_and_mental_retardation_ L2 - http://www.diseaseinfosearch.org/result/1677 DB - PRIME DP - Unbound Medicine ER -