La tunisie Medicale - 2011 ; Vol 89 ( n°09 ) : 723-725
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Article

In 1989, Raine et al. described a new syndrome characterised by mid face hypoplasia leading to choanal athresia, hypoplastic nose, exophtalmos, microcephaly, triangular mounth, gum hyperplasia, cleft palate, and low set ears. Radiographs showed diffuse generalized osteosclerosis with subperiosteal thickening. Since this first case reported in 1989 (1), 21 cases have been published in September 2010 (2) delineating a phenotype which associates dysmorphic features, cerebral calcifications, and thoracic pulmonary hypoplasia. Kan and Kozlowski (3) suggested the name of Raine syndrome to describe this new lethal osteosclerotic bone dysplasia. We present four cases of Raine syndrome, autosomal recessive congenital disorder, occurring in siblings of consanguineous parents.

Case 1

This boy was born at 39 weeks of gestation, the fourth pregnancy. The baby died on day one to severe respiratory distress. Autopsy was denied. He has severe craniofacial anomalies and shortness of all limbs. The chest was short and narrow. Her weight was 2200g, length 45cm, and head circumference 31cm with wide bulging anterior fontanel, bilateral severe proptosis, severely hypoplastic nose with choanal atresia, depressed nasal bridge, and mid-face hypoplasia with small mandible. Mouth was triangular with cleft palate and hypertrophied gums. The ears were low set (figure 1). Radiographs showed generalised osteosclerosis.

Figure 1 : Facial dysmorphy (a, b)

  
Dissection revealed a large thymus and lung severe hypoplasia;the study of brain was not done. Chromosomes were normal.No radiographs of skeleton were practiced and the diagnosis doesn’t definite at the time.

Case 2


The fourth pregnancy occurred at the maternal age of 37 years.The birth of the male foetus was induced at 34weeks gestational age after a prenatal ultrasound diagnosis of periventricular important hyper echogenicity (figure 2), facial dysmorphia and lung hypoplasia. Apgar scores were 2 and 6 at 1 and 5 min respectively. The baby died on four hour due to severe respiratory distress. Autopsy was denied. Post mortem findings exactly the same severe craniofacial anomalies than his brother,he was identical to the previous sib. Skeletal X-ray showed a generalized increase in bone density. Bones of the cranial vault and base were dense, the facial bones were small and sclerotic, the orbital cavities were hypoplastic and the nasal cartilage was absent. The medullary cavities of the long bones were poorly differentiated from the cortex and irregular thickening was present along the diaphyses.

Figure 2 : Axial intrauterine ultrasound: Marqued peri ventricular hyperechogenicity

  
Case 3
The second pregnancy occurred in the maternal age of 24 years .The female newborn, whose birth at 40 weeks of gestation. She died second day after birth of respiratory failure. Post-mortem finding: she had a weight of 2200gr, crown-heel 45cm, head circumference 32cm. There was severe facial dysmorphia with hypoplastic midface short flat nose, exophtalmos, cleft palet incomplete. Radiographic study of the skeleton showed increase in bone density at the base of the skull (figure 3). No definite diagnosis was put forward at the time.

Figure 3 : Increased bone density at the base of the skull

  
Case 4
We present the forth case of Raine syndrome but it has not been yet investigated. The third pregnancy occurred at the maternal age of 25 years. A girl born at home died at fourth day. She presents the same severe cranio-facial abnormality according the mother. Family tree is resumed in figure 4.

Figure 4 : Family tree

 
Conclusion

Raine syndrome appears to be as an autosomal recessive indeed many of the reported patients where from consanguineous unions, and recently a chromosomal rearrangement and telomeric microdeletion and subsequently mutations in the FAM20C gene has been identified.

Références
  1. J Raine, R M Winter, ADavey, S M Tucker. Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. J Med Genet. 1989; 2612: 786–88.
  2. Fradin M, Stoetzel C, Muller J, et al. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. Clin Genet. 2010; 10:1111-1399.
  3. Kan a. E, Kozlowski k. New distinct lethal osteosclerotic bone dysplasia (raine syndrome)Am J Med Gen1992; 43: 860-64.
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