Search :     

2011-08-15-12 Case of the week #306 © Cuillier

Answer to the case of the week #306

November 10, 2011 - November 24, 2011

Fabrice Cuillier, MD
*; J.L. Alessandri, MD**.

*  Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France.
** Department of Neonatology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France.

Case report

A 30-year-old woman (G5P4), was referred to our antenatal unit at 25 weeks for a second opinion ultrasound. She had no relevant history of note (no history of Warfarin exposure, alcohol abuse or vitamin K deficiency). The parents were healthy, Caucasian, non consanguineous couple.

Nuchal translucency was normal during first trimester scan.

At 24 weeks, ultrasound scan showed normal fetal biometry, including the intraorbital and external orbital diameters. Fetal profile was flat with wide naso-frontal angle. No cleft lip or palate was found. Sagittal and coronal sections of the fetal face showed abnormal facial profile with flattened nose, retro-positioned maxilla and thick convex lips. The facial findings were confirmed by 3D ultrasonography. Ears were normal. No other structural abnormalities were noted.

Chromosomal analysis of the amniotic fluid showed normal karyotype (46 XY). 4p deletion (Wolf-Hirschhorn syndrome) was not identified by a fluorescence in situ hybridization.

Multidisciplinary approach of geneticists, neonatologists and orthopedic surgeons concluded that Binder syndrome was the most likely diagnosis.

The male neonate was delivered at 39 weeks (3000 g; 48 cm; normal head circumference). Clinical examination confirmed flat nasal bridge (Pictures N°5).

Hypoplasia of distal phalanges was noted on X-ray scan, but no epiphyseal stippling was found. Genetic study discovered mutation in the Arylsulfatase E gene (ARSE) on the X chromosome and so the final diagnosis was brachytelephalangic chondrodysplasia with Binder phenotype.

Images 1, 2, 3, 4, 5: 2D scans demonstrating flat fetal profile with obtuse frontonasal angle, short nose, retro-positioned maxilla, and thick convex lips.

Images 6, 7, 8: Normal ear, hand and foot.

Images 9, 10, 11, 12, 13, 14: 3D scans demonstrating the facial features of Binder phenotype (depressed nasal bridge and obtuse, flat fronto-nasal angle, short nose, short columella, acute naso-labial angle, and thick convex lips).



Back to case
Help Support :