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Baller-Gerold syndrome

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A disorder characterized by craniosynostosis and hypoplasia or absence of a radius, delayed psychomotor development, and variable craniofacial, cardiac, renal, and skeletal defects.

Description

A disorder characterized by craniosynostosis and hypoplasia or absence of a radius, delayed psychomotor development, and variable craniofacial, cardiac, renal, and skeletal defects. Head and neck: Craniosynostosis, steep forehead, oxycephaly, micrognathia, relative mandibular prognathism, and midline capillary hemangioma. Ears: Low-set malformed ears. Eyes: Hypertelorism. Nose: Prominent nasal bridge, long philtrum, and epicanthal folds. Mouth and oral structures: Cleft palate, bifid uvula, and highly arched palate. Hand and foot: Aplastic or hypoplastic thumbs. Extremities: Bone abnormalities of the upper limbs include radial aplasia or hypoplasia, ulnar hypoplasia, and fused or missing carpal bones. Spine: Occasional vertebral anomalies. Nervous system: Polymicrogyra and hydrocephalus. Cardiovascular system: Heart abnormalities may include ventricular septal defect and subaortic valvular stenosis. Urogenital system: Kidney abnormalities. Sudden infant death is common.

Parental consanguinity was noted in some cases, lack of consanguinity in others, and some cases were reported as sporadic. Most cases are transmitted as an autosomal recessive trait.

Bibliography

  • F. Baller:
    Radiusaplasie und Inzucht.
    Zeitschrift für menschliche Vererbungs- und Konstitutionslehre, 1950, 29: 782-790.
  • M. Gerold
    Frakturheilung bei einem seltenen Fall kongenitaler Anomalie der oberen Gliedmassen.
    Zentralblatt für Chirurgie, Leipzig, 1959, 84: 831-843.
  • M. Z. Pelias, D. W. Superneau, T. F. Thurmon:
    A sixth report (eight case) of craniosynostosis-radial aplasia (Baller-Gerold syndrome).
    American Journal of Medical Genetics, New York, 1981, 10: 133-139.
We thank Patrick Jucker-Kupper, Switzerland, for information submitted.

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