Penile agenesis and clavicular anomaly in a child with an oral facial digital syndrome
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CitationYıldırım, S., Akan, M., Deviren, A. ve Aköz, T. (2002). Penile agenesis and clavicular anomaly in a child with an oral facial digital syndrome. Clinical Dysmorphology. 11(1), s. 29-32.
Oral facial digital syndromes (OFDS) comprise a heterogeneous group of disorders characterized by anomalies of the face (cleft lip and palate), the tongue (bifid or lobulated tongue with hamartomas) and the digits (brachydactyly, polydactyly, syndactyly, clinodactyly). The classification includes nine different types (Toriello, 1993) and two further possible types have been added (Figuera et al., 1993; Camera et al., 1994). Although clinical variability in OFDS may reflect genetic heterogeneity, there is some overlap between these groups, and misdiagnosis may account for some of the variability or overlapping manifestations. All of the subgroups apart from type I (X-linked dominant) and type VIII (X-linked recessive) appear to be autosomal recessive traits.
- Makale Koleksiyonu 
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