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Prenatal sonographic appearance of Beare–Stevenson cutis gyrata syndrome
Author(s) -
Tsai C.C.,
Hsu T.Y.,
Chang S.Y.,
Wang T.J.,
Ou C.Y.,
Chen Z.H.,
Hsu P.U.
Publication year - 2001
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2001.abs28-4.x
Subject(s) - medicine , hypertelorism , amniotic band syndrome , anatomy , surgery , fetus , pregnancy , biology , genetics
Background: Beare first described a 2‐year‐old boy who had abnormal physical feature including hypertelorism, cutis gyratum, acanthosis nigrican, cleft palate, functional pyloric obstruction and abnormal genitalia. Ten cases of Beare–Stevenson cutis gyrata syndrome have been reported. Here, we present, the first case of antenatal ultrasound image of this rare syndrome. A 31‐year‐old Taiwanese, gravida 2, para 1, was referred for fetal evaluation at 32 weeks gestation because of polyhydramnios and fetal head anomaly. Conventional sonography revealed a single fetus with amniotic index of 27.3 cm, cover leaf skull, and a skin fold‐like umbilical cord. Three‐dimensional sonography of the face of the fetus showed, high wide forehead, ocular proptosis, and depressed nasal bridge. The patient delivered a male infant weighing 2980 g at 39 weeks gestation. Physical examination of the infant showed furrows of corrugated appearance of the skin, craniofacial anomalies, particularly craniosynosis, displaced ears, prominent umbilical stump and hypospadia. Computer tomography and magnetic resonance image were performed and revealed fronto‐ethmoid‐nasal, cephalocele, pansynostosis and frontal base defect. Conclusion: A total of 10 cases of Beare–Stevenson cutis gyrata syndrome have been previously reported. All of the previously reported cases of the syndrome were diagnosed postnatally. Our patient presented with ocular hypertelorism, low‐set and creased ears, ocular proptosis, choanal atresia, cloverleaf skull, craniosynosis, cutis gyrata, acanthosis nirican, prominent umbilical stump and bifida scrotum. Here we present the first case of antenatal ultrasound image of this rare syndrome.