Antenatal diagnosis of Seckel Syndrome: a rare case report.
BACKGROUND
Seckel Syndrome is a rare autosomal recessive disorder characterized by dwarfism, microcephaly and the absence of visceral malformations.


METHODS
we observed sonographic features of a Seckel Syndrome, in a patient during the 24th week of pregnancy. Her family history was negative for malformation and chromosomal disorders. The diagnosis was later confirmed by molecular tests.


CONCLUSIONS
diagnosis should be made only by expert operators. Karyotype analysis is essential to confirm the diagnosis.
Department of Woman, Child and General and Specialistics Surgery, II University of Naples, Naples, Italy.
Carmine
C
Vascone
Department of Ginecological-Obstetrical Sciences and Urological Sciences, "Sapienza" University of Rome, Rome, Italy.
Filippo
F
Di Meglio
Clinical Department of Ginecology and Ostetricics of Physiopathology Reproduction, "Federico II" University of Naples, Naples, Italy.
Letizia
L
Di Meglio
Clinical Department for the Woman's Health and Protection, Newborning life, Child and Adolescent. Catholic University of " Sacro Cuore", "Agostino Gemelli" Polyclinic of Rome, Italy.
Luigi Carlo Lo
LC
Turco
Department of General Surgery and Medical Surgical Specialties, University of Catania, Catania, Italy.
Salvatore Giovanni
SG
Vitale
Department of Gynecologic Ultrasound Imaging, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
Pietro
P
Cignini
Department of General Surgery and Medical Surgical Specialties, University of Catania, Catania, Italy.
Ilaria
I
Marilli
Department of General Surgery and Medical Surgical Specialties, University of Catania, Catania, Italy.
Agnese Maria Chiara
AM
Rapisarda
Department of General Surgery and Medical Surgical Specialties, University of Catania, Catania, Italy.
Gaetano
G
Valenti
Department of General Surgery and Medical Surgical Specialties, University of Catania, Catania, Italy.
Stefano
S
Cianci
Seckel Syndrome; bird-headed appearance; dwarfism; microcephaly; prenatal diagnosis; ultrasound