Limb deficiency and splenogonadal fusion

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Abstract
A 10-yr-old boy with tetramelic limb deficiencies, splenogonadal fusion and mild mandibular and oral abnormalities was reported. This patient is quite typical of 14 reported cases with this combination of findings. This association must be nosologically closely related to the Hanhart syndrome and other syndromes of limb deficiency and orofacial abnormalities. Recent experience does not support the idea that limb reduction with splenogonadal fusion is an invariably lethal dominant disorder.

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