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Acrofacial dysostosis: a new type?

Decio Brunoni^{I, IV}; João Guidugli-Neto^II; Eneide Silveira Chedick^III; Cleide L. Borovik^I

^IUnidade de Citogenética, Serviço de Laboratório Clínico
^IIServiço de Anatomia Patológica
^IIIServiço de Neonatologia, Hospital dos Servidores Públicos do Estado de São Paulo, Rua Pedro de Toledo, 1800, 04039 São Paulo, SP, Brasil
^IVDisciplina de Genética, Departamento de Morfologia, Escola Paulista de Medicina, Caixa Postal 20363, 04034 São Paulo, SP, Brasil. Send correspondence to D.B. at this address

ABSTRACT

Miller and Nager syndromes are two reasonably well-defined syndromes belonging to the nosologic group of Acrofacial Dysostosis (AFD). This report describes a male newborn with the Robin sequence, down-slanting palpebral fissures, absence of external auditory meati, aplasia ulnae, humero-radial synostosis, four metacarpal bones, apparent absence of the second digital ray, absent right fibula with short and bowed right tibia, and pyelo-calyceal bilateral duplication. The question whether this case and others from the literature are different types of AFD syndromes or a variable expressivity of Nager Syndrome is discussed.

Keywords: acrofacial; dysostosis.

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