Background: Geleophysic dysplasia is a rare genetic bone disorder characterized by severe short stature, short hands and feet, characteristic facial features, limited joint mobility, thick skin, progressive cardiac valvular disorders and sometimes upper respiratory stenosis. Diagnosis of this disorder is based on clinical and radiographic criteria. Until now only 60 cases have been reported in the literature.
Case report: One-month-old male baby was initially referred to our Pediatric Clinic because of short limbs with small hands and feet and a diagnosis of Achondroplasia.
He was born at term to non-consanguineous unaffected parents. At birth his weight and length were both under the 3rd percentile.
Amniocentesis performed at week 16 of gestation revealed a normal male karyotype (46, XY). Ultrasound scan at 28 weeks of pregnancy showed short long bones with a femur length (FL) below the 10th percentile, which worsened below the 3rd percentile in the consecutive cheks.
During the first year of life both weight and length remained under the 3rd percentile with a marked growth retardation. At clinical examination the patient had a broad nasal bridge and joint mobility was generally restricted especially at the elbows. The thorax was flared and abdomen was prominent without any apparent hepatosplenomegaly.
Skeletal X-ray examination showed cone shaped and enlarged epiphyses of long bones, hand and feet abnormalities with short tubular bones, widening of the 1st and 5th metacarpals and abnormal shape of the proximal and middle phalanges. The upper respiratory tract and echocardiography findings were normal.
Thus, we diagnosed a case of an intermediate form of geleophysic dysplasia without cardiac and upper respiratory involvement.
Discussion: As a consequence of the clinical variability of this rare genetic bone disorder, a better knowledge of its pathogenesis may probably help to find a therapeutic approach that is actually still lacking; finally only a regular follow up and a multidisciplinary approach could help us to early detect life-threatening signs of the disease and to improve the patients quality of life.
22 Jun 2013 - 25 Jun 2013