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Humeroradial/multiple synostosis syndrome in a brazilian child with consanguineous parents. A new multiple synostosis syndrome?

A. Richieri-Costa^I; N.A.B. Pagnan^II; I. Ferrareto^III; D. Masiero^III

^IDepartamento de Genética, Instituto Básico de Biologia Médica e Agrícola, UNESP, 18610 Botucatu, SP, Brasil. Send correspondence to A.R.-C.
^IILaboratório de Genética Humana, Departamento de Biologia, Universidade de São Paulo, São Paulo, SP, Brasil
^IIIAssociação de Assistência à Criança Defeituosa, São Paulo, SP, Brasil

ABSTRACT

We report on a 11-month-old girl born to a consanguineous couple with plagiobrachycephaly, prominent forehead, broad nasal root, small auricles with hypoplastic lobes, and an unusual type of multiple synostosis involving humeroradial, carpal, tarsal and phalangeal joints associated with "apparent" agenesis of the distal phalanges of the postaxial digits (fingers and toes). Autosomal recessive inheritance is the most likely hypothesis. To our knowledge, no identical reports have been published in the pertinent literature.

Keywords: humeroradial ;synostosis syndrome; consanguineous.

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