Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations.
The oral-facial-digital syndromes (OFDS) represent a heterogenous group of disorders characterized by oral malformation, facial anomalies, and digital anomalies. Type II OFDS was reported by Mohr in 1941. Mohr syndrome is an autosomal recessive inherited disease characterized by median cleft lip, poly lobed tongue, absence of medial incisors, and polydactyly of hands and feet. Some other different expressive types of OFDS cases have been reported, and identified with 11 different clinical entities up to the present. Until now, only three cases of OFDS II in Japanese patients have been detected except for our patient. At this time, we observed a Japanese patient of Mohr syndrome with median cleft lip and tongue, hypertrophied frenula, absence of left medial incisor, and bilateral bifidity of great toe. Lip and tongue plasty was performed at 7 months after birth and toe plasty was done at 11 months with good results.
Sakai
Naohiko
N
Department of Plastic and Reconstructive Surgery, Kitasato University School of Medicine, 1-15-1 Kitasato, Sagamihara Kanagawa 228-8555, Japan. kprs@kitasato-u.ac.jp
Nakakita
Nobuaki
N
Yamazaki
Yasuharu
Y
Ui
Kenji
K
Uchinuma
Eiju
E
D005260:Female; D005808:Genes, Recessive; D006214:Hallux / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007564:Japan; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D013576:Syndactyly / Q000473:pathology