A 19-week-old fetus with craniosynostosis, renal agenesis and gastroschisis: case report and differential diagnosis.
A case of a fetus affected with craniosynostosis, unilateral renal agenesis and gastroschisis is reported. The propositus was delivered on the 19th week of gestation for premature rupture of the membranes. Macroscopy showed turricephaly, shallow orbits, exophthalmos, hypertelorism, hypoplastic maxilla with relative mandibular prognathism and gastroschisis. Additional autopsy findings included a premature bilateral closure of the lambdoid suture and a unilateral renal agenesis. The nosological aspects of this fetus and the differential diagnosis of well-described craniosynostosis syndromes with characteristic craniofacial growth patterns (Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome) are discussed.
Sergi
C
C
Institute of Pathology, University of Heidelberg, Germany. Consolato_Sergi@krzmail.krz.uni-heidelberg.de
Stein
H
H
Heep
J G
JG
Otto
H F
HF
D000009:Abdominal Muscles / Q000002:abnormalities*; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D003398:Craniosynostoses / Q000175:diagnosis* / Q000196:embryology; D003937:Diagnosis, Differential; D005315:Fetal Diseases / Q000175:diagnosis*; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007668:Kidney / Q000002:abnormalities*