[Syndactylia associated with multiple malformation syndromes. Observation of a new symptomatologic complex in 3 brothers].
Hand and feet malformations are often part of complex malformation associations. The present paper reports on a family whose three sibs (two males and one female) are affected with symmetric soft tissue syndactyly involving both fingers and toes, fifth finger clinodactyly, a pattern of dysmorphism including down slanting palpebral fissures, long flat nasal saddle, out turned nostril openings ("Greek warrior helmet"-like profile), dysplastic teeth, and, in addition, severe growth retardation, microcephaly, severe mental deficiency with immaturity of cerebral activity of EEG, hypergonadotropic hypogonadism and some skeletal anomalies. All cases show large secondary constriction in one of the chromosome 1 pair (1qh+).
Garau
A
A
Istituto di Clinica Pediatrica, Università di Cagliari, Italia.
Nurchi
A M
AM
Melis
P
P
Frau
G
G
Costa
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D008297:Male; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome
In tema di sindattilia associata a sindromi plurimalformative. Osservazione di un nuovo complesso sintomatologico in tre fratelli.