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Course: Trichothiodystrophy

CME Credits: 1.00

Released: 2023-06-21

A male infant with intrauterine growth restriction presented for evaluation after birth at 31 weeks of gestation. Examination revealed erythematous skin that was covered with a subtle parchment-like coating without ectropion or eclabium. His hairs were frizzy, coarse, and fragile, and his nails were normal (, A). The patient also had low-set ears, blepharophimosis, osteopenia, and 3 uncomplicated superficial infantile hemangiomas.


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