Patterson-Stevenson-Fontaine Syndrome

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Patterson-Stevenson-Fontaine syndrome is a very rare congenital form of acrofacial dysostosis combined with limb malformations such as ectrodactyly (cleft foot ).

Synonyms are: Patterson-Stevenson Syndrome; english Split foot deformity-mandibulofacial dysostosis syndrome

The name refers to the first authors of the first description from 1964 by the British doctors TJS Patterson and AC Stevenson and from 1974 by the French G. Fontaine et al.

Spread and cause

The frequency is given as less than 1 in 1,000,000, so far 10 people have been reported. The inheritance is autosomal dominant . The cause is not yet known.

Clinical manifestations

Clinical criteria are:

Differential diagnosis

Other forms of acrofacial dysostosis must be differentiated.

literature

  • AO Wilkie, TE Goodacre: Patterson-Stevenson-Fontaine syndrome: 30-year follow-up and clinical details of a further affected case. In: American journal of medical genetics. Vol. 69, No. 4, April 1997, pp. 433-434, PMID 9098499 .
  • JM Opitz, F. Mollica, G. Sorge, G. Milana, G. Cimino, M. Caltabiano: Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. In: American journal of medical genetics. Vol. 47, No. 5, October 1993, pp. 660-678, doi: 10.1002 / ajmg.1320470517 , PMID 8266994 (review).

Individual evidence

  1. ↑ a b c Split hand with mandibulofacial dysostosis. In: Orphanet (Rare Disease Database).
  2. ^ TJ Patterson, AC Stevenson: Craniofacial dysostosis and malformations of the feet. In: Journal of medical genetics. Vol. 1, No. 2, December 1964, pp. 112-114, PMID 14234106 , PMC 1012758 (free full text).
  3. ↑ G. Fontaine, JP Farriaux, P. Delattre, Z. Gidlecki, B. Poupard, G. Durieux, JJ Piquet: Une observation familiale du syndrome ectrodactylie et dysostose mandibulo-faciale. In: Journal de genetique humaine. Vol. 22, No. 4, December 1974, pp. 289-307, PMID 4376815

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