Unusual clinical course, Challenging differential diagnosis, Rare disease, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)
Nitin Ron, Samuel Leung, Erin Carney, Alexis Gerber, Karen Laurie David
(New York Methodist Hospital, Brooklyn, NY, USA)
Am J Case Rep 2016; 17:254-258
Beare-Stevenson syndrome (BSS) is an extremely rare genetic disorder, with fewer than 25 cases reported worldwide. This autosomal dominant syndrome has been linked to two mutations in the fibroblast growth factor receptor 2 gene (FGFR2), Tyr375Cys and Ser372Cys, both causing amino acid changes.
CASE REPORT: BSS is characterized by a range of morphological features, some more classically associated than others, of which craniosynostosis has been almost uniformly present. Other common features include cutis gyrata, acanthosis nigricans, ear and eye defects, skin/mucosal tissue tags, prominent umbilical stump, and anogenital anomalies. This account reports what we believe to be the 25th case of BSS, and exhibits a constellation of the characteristic features similar to those previously described, including the presence of cutis gyrata, proptosis, a bifid scrotum, and hypospadias. However, craniosynostosis was not detected prenatally by ultrasound or at birth. Prenatal ultrasound may detect some dysmorphic features of BSS. Many of these features have also been associated with other genetic disorders with overlapping phenotypes.
Our case presented with the unusual features of a natal tooth and absence of craniosynostosis at birth. At birth, a diagnosis of BSS was suspected based on clinical features despite the absence of craniosynostosis. This was later confirmed with the use of molecular analysis, revealing a Tyr375Cys mutation of exon 9 of the FGFR2 gene.
CONCLUSIONS: We suggest that a normal antenatal ultrasound scan and the absence of craniosynostosis at birth should not preclude further workup for BSS if this possibility is clinically suspected.
Keywords: Craniosynostoses - genetics, Acanthosis Nigricans - genetics, Ear - abnormalities, Exons, Humans, Infant, Newborn, Male, Mutation, Missense, Natal Teeth, Rare Diseases, Receptor, Fibroblast Growth Factor, Type 2 - genetics, Scalp Dermatoses - genetics, Skin Abnormalities - genetics, Twins, Monozygotic