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Summary: Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of Maroteaux type or a new syndrome?: We report a patient with acromesomelic dysplasia, cardiac and neurologic abnormalities. This may be a new syndrome or cardiac and neurologic features may be undescribed rare features of acromesomelic dysplasia.
Key-words: Acromesomelic dysplasia - Cardiac abnormality - Neurologic abnormality.
INTRODUCTION
Acromesomelic dysplasia (AMD) is a rare autosomal recessive disorder, characterized by acromelic and mesomelic shortening (4). Neurologic and cardiac abnormalities have been reported in several other skeletal dysplasias but not in this condition. We report a case of acromesomelic dysplasia with cardiac and neurologic abnormalities.
CLINICAL REPORT
A 25-month-old girl with pneumonia was admitted to the emergency department. She was the first child of healthy parents. There was consanguinity between the parents. They were uncle children also first cousins. Pedigree analysis showed two relatives, two sons of the uncle of the father of our case, with marked short stature but unfortunately, their parents did not let us to evaluate those children. Father's height was 163 cm, mother's was 150 cm. Mother didn't consult by a physician during pregnancy. She was born by spontaneous vaginal delivery at term and cried after the delivery. Her birth weight was 2500 gram. There wasn't a pre-post natal asphyxia history. Her mental and motor development was delayed. She talks only single words like daddy, mammy. And she started walking when she was 23 months.
On physical examination, frontal bossing, flattened nose, 2/6 systolic murmur, brachydactyly and mild hepatomegaly were noted (Fig. 1). Radiological evaluation showed short, stubby long bones with flaring at ends. Radius...