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

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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.

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Abbreviations

MCPPP:

metacarpal phalangeal pattern profile

FSH:

follicle stimulating hormone

LH:

futeinizing hormone

TORCH:

toxoplasmosis, rubella, cytomegaly and herpes

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Correspondence to R. C. M. Hennekam.

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Hennekam, R.C.M., van de Meeberg, A.G., van Doorne, J.M. et al. Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance. Eur J Pediatr 147, 539–543 (1988). https://doi.org/10.1007/BF00441986

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Key words

  • Martsolf syndrome
  • Mental retardation
  • Cataract
  • Hypogonadism
  • Autosomal recessive inheritance