*Center for Human Genetics; **Department of Obstetrics and Gynecology and ***Department of Neonatology , University of Leuven, Leuven, Belgium.
Address correspondence to Ingrid Witters, Center for Human Genetics, Herestraat 49, 3000 Leuven, Belgium
Oral-Facial-Digital syndrome type IV (OFD 4; 258860), OFD syndrome, Baraitser-Burn type, OFD syndrome with tibial defects, Baraitser-Burn syndrome.
Mohr syndrome (OFD2; 252100) is characterized by poly-, syn-, and brachydactyly, lobate tongue with papilliform protuberances, angular form of the alveolar process of the mandible.
Majewski syndrome (Short-Rib-Polydactyly type II; 263520) is characterized by a small thorax with short ribs, and polydactyly.
The Mohr-Majewski compound combines features of OFD2 and Majewski syndrome. It is not yet clear whether this is to be considered as a separate entity or a variable expression of the OFD group (as described in the OFD type IV syndrome) or of the Short-Rib-Polydactyly syndromes.
A consanguineous Turkish couple, with one healthy daughter, was seen in the second pregnancy at 25 weeks for a fetal skeletal dysplasia with a small, long thorax and mesomelic shortening of the limbs, no polydactyly, and a normal amount of amniotic fluid (fig. 1 ultrasound; fig. 2, MRI).
Karyotype was normal 46, XX.
The parents decided to continue the pregnancy. At 39 weeks the girl was born by caesarean section for fetal distress (weight: 2630 g - 5th centile; length: 47 cm - 5-10th centile; head circumference: 35.4 cm - 90th centile).
On postnatal examination she has a small thorax, short limbs (mainly the lower legs and upper arms), short hands and feet (fig. 8, 9, 10). On her tongue she has two hamartomas (fig. 7). They were removed surgically. She has an irregular alveolar ridge and bilateral retinal colobomas. X-rays show a small long thorax with short ribs (fig. 5, 6), mesomelic shortening of the limbs, short phalanges (fig. 2, 3, 4, 5) and broader metaphyses of the tibiae and femora.
At the age of 10 months she has a developmental score for 2 months, is severely hypotonic and requires tube feeding. Hearing examination (Brainstem Evoked Response Audiometry - BERA) shows no abnormalities. Brain MRI shows no abnormalities.
Figure 1: Prenatal ultrasound with small, long thorax.