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The other examination findings were: brachycephaly, mild upward slant of the eyes, flat nasal bridge, bilateral clinodactyly and micropenis Both testis were in well formed scrotal sacs.

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There are a range of other associated phenotypic features such as low birth weight, slow growth with retarded bone age, craniofacial anomalies, abnormal genitals, widely spaced nipples, cardiac deformities, and skeletal abnormalities.

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A Sri Lankan child with 49,XXXXY syndrome

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A baby boy who was noticed to have ambiguous genitalia at birth was referred for genetic studies.

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Conflict of Interest: None declared.

Description: National Center for Biotechnology Information , U.

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