[Jarcho-Levin syndrome. Description of a clinical case with familial 14;21 translocation].
The authors report the case of a child born at the Fatebenefratelli Hospital in Benevento with spondylo-costal dysplasia (SCD). SCD ia a rare association of vertebral and costal anomalies which was first described in 1938 by Jarcho and Levin. The fundamental characteristic of SCD is the anomalous nature of the vertebrae and ribs and, for this reason, subjects affected by SCD are above all short stature and present major physical malformations. In genetic terms, the pathology can be subdivided into three sub-groups based on the type of transmission: a) a dominant autosomic form, benign evolution; b) a recessive autosomic form, very severe; c) a recessive autosomic version with a relatively benign evolution. The case in question concerned a newborn suffering from severe bodily disharmony with dysmorphic features. Family medical history only showed diabetes mellitus and kyphoscoliosis in the paternal grandfather. The physiological anamnesis was completely negative (born at term, elective cesarean section) except for the fact that the mother had received estroprogestin therapy between the 2nd and 5th month of pregnancy due to partial placenta previa. The radiographic examination of the skeleton showed profound alterations of the vertebral column due to the presence of numerous hemispondyls, multiple costal malformations with segmentary synostosis and brachycephaly.(ABSTRACT TRUNCATED AT 250 WORDS)
Sellitto
F
F
Sezione di Pediatria, Ospedale "Fatebenefratelli" - Benevento.
Dello Iacono
I
I
Falato
M E
ME
Parente
C
C
Quarantiello
F
F
Varricchio
E
E
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14; D002891:Chromosomes, Human, Pair 21; D003937:Diagnosis, Differential; D006801:Humans; D007621:Karyotyping; D008297:Male; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome; D014178:Translocation, Genetic
Sindrome di Jarcho-Levin. Descrizione di un caso clinico con traslocazione 14;21 familiare.