New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels.

Summary: New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels: A sporadic, adult male patient with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, and low serum cholesterol levels is presented. Some of the patient's features resemble brachyolmia, Spondylo-epiphyseal dysplasia tarda, Kenny-Caffey and Stickler syndromes. Based on literature review, possible diagnoses are discussed. In conclusion, this patient can have a variant of brachyolmia or Spondylo-epiphyseal dysplasia tarda. However, we cannot exclude that this constellation of clinical features may represent a new syndrome. Key-words: Generalized platyspondyly- Large mandible - Hypoplastic teeth - Hyperopia - Low cholesterol levels. INTRODUCTION Brachyolmia is a rare short-trunk, short stature skeletal dysplasia characterized by generalized platyspondyly and no significant epiphyseal or metaphyseal changes of long bones (3). The term brachyolmia comes from the Greek word for "short trunk" (4). Three different clinical subtypes had been reported based on the inheritance pattern, clinical and radiologic findings (8). The presence of additional features such as corneal punctuate opacities, precocious calcification of costal cartilage and falx cerebri, and abnormal excretion of glycosaminoglycans were noticed (3, 4). Recently, unclassified cases of brachyolmias have been reported (11). Spondylo-epiphyseal dysplasia tarda (SED tarda), a similar condition to brachyolmia, is characterized by short trunk, vertebral defects, degenerative hip dysplasia and lumbar vertebral changes in adults (1, 5). Stickler and Kenny-Caffey syndromes are other conditions that could be considered as a possible differential diagnosis (6, 7, 9, 10). We report on a patient with generalized platyspondyly, whose clinical, radiology and laboratory findings combine features of both brachyolmia and SED tarda. We suggest that this may be a new syndrome. CASE REPORT The patient is a 25 year old male, who has isolated short stature and low weight. Platyspondyly was detected at a regular military health service check-up and this was the reason for his referral to the genetics clinic. The family history was unremarkable. Records of his physical measurements were not available. Developmental milestones have been normal. However, the height and weight have always been at the lower edge of the normal. He has two operations due to strabismus and pharyngeal vegetation. He was born at 40 weeks, following an uneventful pregnancy to non-consanguineous, healthy parents. On examination, his physical measurements were as follows: Weight 55kg (10-25* centile), height 161cm (3rd centile) and head circumference 57cm (50-75* centile). He had broad forehead, short nose and columella, anteverted nostrils, bulbous nasal tip, prominent philtrum, hypoplastic teeth, large mandible. The ears were small and anteverted, and the ear lobules were hypoplastic (Fig. IA). In addition, there were short trunk, scoliosis, pectus excavatum and mildly enlarged halluces (Fig. IB). Ophthalmologic examination showed bilateral hyperopia and no vitreous abnormalities. The X-ray survey revealed flattening of vertebrae (platyspondyly) (Fig. 2). The pelvis had flat acetabular roofs with mild marginal sclerosis. Both femurs had widening of proximal metaphysis and flattening of the adjacent epiphysis. There was also some irregular delineation and fragmented appearance of the epiphysis on the left (Fig. 2, 3). Biochemical tests revealed persistently decreased total cholesterol, triglyceride and VLDL-cholesterol levels, which were 135mg/dl (150-240mg/dl), 38mg/dl (50-200mg/dl), 8mg/ dl (10-40mg/dl), respectively. The serum electrolytes, thyroid hormones, thyroid stimulating hormone, parathormone and total testosterone were normal. …