Mohr syndrome in two siblings. 1983

A Gencík, and A Gencíkova

The present study reports on two siblings of different sex, affected with a condition corresponding to Mohr syndrome. Characteristic symptoms such as epicanthic folds, a broad and flattened nasal root, a lobulated and hamartomatous tongue, poly- and syndactyly on both hands and feet, doubling of the big toes with less frequent features such as marked psychosomatic retardation and overall hypotony have been observed. All the cited anomalies have been of importance in the differential diagnosis. Difficulties associated with classification of new syndromes and the importance for practical clinical genetics of distinguishing between them are discussed.

UI MeSH Term Description Entries
D008297 Male Males
D009958 Orofaciodigital Syndromes Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. Gorlin-Psaume Syndrome,Mohr Syndrome,Papillon-Leage and Psaume Syndrome,Dysplasia Linguofacialis,Oral-Facial-Digital Syndrome,Oral-Facial-Digital Syndrome, Type I,Oral-Facial-Digital Syndrome, Type II,Oro-Facio-Digital Syndrome,Orodigitofacial Dysostosis,Orodigitofacial Syndrome,Orofaciodigital Syndrome,Orofaciodigital Syndrome I,Orofaciodigital Syndrome II,Gorlin Psaume Syndrome,Oral Facial Digital Syndrome, Type I,Oral Facial Digital Syndrome, Type II,Orofaciodigital Syndrome IIs,Orofaciodigital Syndrome Is,Papillon Leage and Psaume Syndrome,Syndrome, Gorlin-Psaume,Syndrome, Mohr,Syndrome, Orofaciodigital,Syndromes, Orofaciodigital
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D005528 Foot The distal extremity of the leg in vertebrates, consisting of the tarsus (ANKLE); METATARSUS; phalanges; and the soft tissues surrounding these bones. Feet
D005532 Foot Deformities, Congenital Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth. Congenital Foot Deformities,Congenital Foot Deformity,Deformities, Congenital Foot,Deformity, Congenital Foot,Foot Deformity, Congenital
D006225 Hand The distal part of the arm beyond the wrist in humans and primates, that includes the palm, fingers, and thumb. Hands
D006228 Hand Deformities, Congenital Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth. Congenital Hand Deformities,Congenital Hand Deformity,Deformities, Congenital Hand,Deformity, Congenital Hand,Hand Deformity, Congenital

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