46, XY, del (3) (pter-->p25) syndrome: further delineation of the clinical phenotype.
A boy with monosomy for the distal part of the short arm of chromosome 3 is described. The clinical features this patient has in common with the previously reported cases include pre- and post-natal growth delay, microcephaly, craniofacial dysmorphism and mental retardation. In addition, minor abnormalities not previously reported were observed, such as snapping thumbs, dorsiflected big toes, connecting anterior and posterior fontanelles at birth, nasolacrimal duct stenosis and double urethral meatus. Conclusion These five new clinical findings may help in further delineation of the syndrome and allow its early recognition. A complete revision of clinical findings published in literature is reported.
Benini
D
D
Department of Paediatrics, University of Verona, Ospedale Policlinico Borgo Roma, Via delle Menegone 10, 37134 Verona, Italy.
Vino
L
L
Vecchini
S
S
Fanos
V
V
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009006:Monosomy; D009123:Muscle Hypotonia / Q000235:genetics; D013577:Syndrome