Contributed by: Dr Haseena Sait Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, India
	Email: hasi.flower@gmail.com
	This 2-year-old male child, born of third-degree consanguineous marriage, presented with coarse facies, gingival hypertrophy, multiple nodular swellings over the scalp and lumbosacral region, pearly papules of the neck and perianal region, and contractures of the large and small joints. Identify the condition
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Answer to PhotoQuiz 65

Femoral Hypoplasia – Unusual Facies Syndrome (OMIM %134780)

'Femoral Hypoplasia – Unusual Facies Syndrome' also known as 'Femoral – Facial Syndrome' is a rare disorder associated with bilateral femoral hypoplasia and dysmorphic facial features including upslanting palpebral fissures, a short nose with a broad tip, long philtrum, thin upper lip, micrognathia, and cleft palate. Renal anomalies and intracranial anomalies have also been reported in some affected individuals. The femoral involvement can be asymmetric. Majority of cases occur sporadically and do not have an identifiable etiology, but a similar phenotype can occur due to the teratogenic effects of maternal diabetes.

Correct responses were given by:

1. Dr Vibha Jain. Anuvanshi, Ghaziabad, India. 2. Dr Beena Suresh. Mediscan System, Chennai, India. 3. Dr Karthick. Nottingham, United Kingdom.