Moebius syndrome in Kallmann syndrome.
A girl born with congenital paresis of cranial nerves III, IV, and VII (Moeblus syndrome) subsequently developed a progressive peripheral neuropathy. There was suggestive evidence of a familial neuropathy with autosomal dominant inheritance in three family members. The patient also had hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome).
D000010:Abducens Nerve; D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D005058:Eunuchism / Q000150:complications*; D005158:Facial Paralysis / Q000151:congenital*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications* / Q000151:congenital; D007223:Infant; D008607:Intellectual Disability; D000857:Olfaction Disorders / Q000150:complications* / Q000151:congenital; D009886:Ophthalmoplegia / Q000150:complications*; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000235:genetics; D013577:Syndrome