TY - JOUR
T1 - Clinical and roentgenographic findings in a patient with primordial microcephalic dwarfism type caroline crachami
AU - Boscherini, B.
AU - Colabucci, F.
AU - Galasso, C.
AU - Marietti, G.
AU - Cappa, M.
AU - Pasquino, A. M.
PY - 1996/12/18
Y1 - 1996/12/18
N2 - We describe a patient with primordial microcephalic dwarfism with severe intrauterine growth retardation and severe and progressive postnatal deficit in length, weight and head circumference. The patient was extroverted and sociable but mildly mentally retarded. He had marked delay of bone maturation and an enlargement of the sella turcica. This child and two previously reported patients [Boscherini et al., Eur J Pediatr 137:237-242, 1981] have many characteristics in common with Caroline Crachami, the famous 'Sicilian dwarf.' We think that these patients belong to a separate category of microcephalic primordial dwarfism.
AB - We describe a patient with primordial microcephalic dwarfism with severe intrauterine growth retardation and severe and progressive postnatal deficit in length, weight and head circumference. The patient was extroverted and sociable but mildly mentally retarded. He had marked delay of bone maturation and an enlargement of the sella turcica. This child and two previously reported patients [Boscherini et al., Eur J Pediatr 137:237-242, 1981] have many characteristics in common with Caroline Crachami, the famous 'Sicilian dwarf.' We think that these patients belong to a separate category of microcephalic primordial dwarfism.
KW - intrauterine growth retardation
KW - microcephalic primordial dwarfism
KW - osteodysplastic primordial dwarfism type III
KW - Seckel syndrome
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U2 - 10.1002/(SICI)1096-8628(19961218)66:3<269::AID-AJMG6>3.0.CO;2-K
DO - 10.1002/(SICI)1096-8628(19961218)66:3<269::AID-AJMG6>3.0.CO;2-K
M3 - Article
C2 - 8985485
AN - SCOPUS:0030461031
VL - 66
SP - 269
EP - 272
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -