Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance

R. C. Hennekam; A. G. van de Meeberg; J. M. van Doorne; P. F. Dijkstra; J. B. Bijlsma

doi:https://doi.org/10.1007/BF00441986

Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance

R. C. Hennekam, A. G. van de Meeberg, J. M. van Doorne, P. F. Dijkstra, J. B. Bijlsma

Other Departments

Research output: Contribution to journal › Article › Academic › peer-review

25 Citations (Scopus)

Abstract

A brother and sister with Martsolf syndrome are reported. The main characteristics of the syndrome are mental retardation, short stature, cataracts, hypogonadism and craniofacial anomalies including microcephaly, maxillary retrusion, pouting mouth, malaligned teeth and mildly dysplastic pinnae. The metacarpal and phalangeal bones are short. The occurrence of Martsolf syndrome in sibs of opposite sex suggests autosomal recessive inheritance

Original language	English
Pages (from-to)	539-543
Journal	European journal of pediatrics
Volume	147
Issue number	5
DOIs	https://doi.org/10.1007/BF00441986
Publication status	Published - 1988

Access to Document

https://doi.org/10.1007/BF00441986

Cite this

@article{4ce1cf06bd3446beb776fee396619004,

title = "Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance",

abstract = "A brother and sister with Martsolf syndrome are reported. The main characteristics of the syndrome are mental retardation, short stature, cataracts, hypogonadism and craniofacial anomalies including microcephaly, maxillary retrusion, pouting mouth, malaligned teeth and mildly dysplastic pinnae. The metacarpal and phalangeal bones are short. The occurrence of Martsolf syndrome in sibs of opposite sex suggests autosomal recessive inheritance",

author = "Hennekam, {R. C.} and {van de Meeberg}, {A. G.} and {van Doorne}, {J. M.} and Dijkstra, {P. F.} and Bijlsma, {J. B.}",

year = "1988",

doi = "https://doi.org/10.1007/BF00441986",

language = "English",

volume = "147",

pages = "539--543",

journal = "European journal of pediatrics",

issn = "0340-6199",

publisher = "BioMed Central",

number = "5",

}

TY - JOUR

T1 - Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance

AU - Hennekam, R. C.

AU - van de Meeberg, A. G.

AU - van Doorne, J. M.

AU - Dijkstra, P. F.

AU - Bijlsma, J. B.

PY - 1988

Y1 - 1988

N2 - A brother and sister with Martsolf syndrome are reported. The main characteristics of the syndrome are mental retardation, short stature, cataracts, hypogonadism and craniofacial anomalies including microcephaly, maxillary retrusion, pouting mouth, malaligned teeth and mildly dysplastic pinnae. The metacarpal and phalangeal bones are short. The occurrence of Martsolf syndrome in sibs of opposite sex suggests autosomal recessive inheritance

AB - A brother and sister with Martsolf syndrome are reported. The main characteristics of the syndrome are mental retardation, short stature, cataracts, hypogonadism and craniofacial anomalies including microcephaly, maxillary retrusion, pouting mouth, malaligned teeth and mildly dysplastic pinnae. The metacarpal and phalangeal bones are short. The occurrence of Martsolf syndrome in sibs of opposite sex suggests autosomal recessive inheritance

U2 - https://doi.org/10.1007/BF00441986

DO - https://doi.org/10.1007/BF00441986

M3 - Article

C2 - 3409931

SN - 0340-6199

VL - 147

SP - 539

EP - 543

JO - European journal of pediatrics

JF - European journal of pediatrics

IS - 5

ER -