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Ned Tijdschr Geneeskd ; 160: D190, 2016.
Artículo en Holandés | MEDLINE | ID: mdl-27438390

RESUMEN

A newborn had a tight, dry skin with multiple fissures, an eclabium and ectropion. Breathing was compromised and regulation of body temperature was impaired. We described the patient as a 'collodion baby'. After genetic investigation the diagnosis congenital ichtyosis, recessive type 1 was made. At 12 months of age, the skin symptoms were significantly diminished.


Asunto(s)
Ectropión/diagnóstico , Ictiosis Lamelar/diagnóstico , Ectropión/congénito , Ectropión/genética , Humanos , Ictiosis Lamelar/genética , Recién Nacido , Masculino
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