High incidence of long bones dysplasia in newborn infants in Qatar

Background and Objectives: Dysplastic/ absent long bones (DALB) is a rare congenital anomaly. Absent radius and ulna incidence has been reported as 1/50,000 to 1/100.000 newborns. Several infants had been admitted to our nevvborn services in the last several years. We wanted to define the epidemiological characleristics of the newborns and their mothers with congenital mis.sing long bones.
Setting: Women's Hospital, Doha, Qatar. The only women's hospital in Qatar where about 98% of all pregnancies are delivered.
Methods: We reviewed the records of birth and the Neonatal Intensive and Intermecliate care Llnits admission books in the last 6 years, 1988-1994 for infants who had documented DALB.
Results : Total number of live born infants in the study period was about 90,000 infants. We were able to identify and review the medical records of 13 infants with DALB. Radius was dysplastic / absent in 9 cases (1/10,000), and ulna was dysplastic / absent in 5 cases (1/18,000), tibia and fibula both were absent in 2 patients (1/ 45,000), femur and humerus were absent in one patient each (1/90,000). Male to female ratio was 1:1. Birth weight mean 26l4 + 749 (SD) gm, gestational age mean 37 + 31 (SD) weeks, 4 infants were <37 weeks. Mother age range between 20-35 years. History of a previous abortion was present in 38.55% of all mothers, and 53.8% of ali mothers were diabetics. History of consanguinity was present in 61.5% of all cases. Chromosomal studies were normal in all cases studied (8). DALB were more common in the upper limbs than lower limbs (ratio 3-3:1), and in the left upper limb than the right upper limb (ratio 2.5:1). DALB in the upper limbs presented bilaterally in 36.4% of the cases, in the left side in 45.5% and in the right side in 18.1%. None of the infants had anemia, thrombocytopenia, fractures, hypophosphatemia or hypocalcemia. Seven patients had major congenital anomalies. Four infants had congenital heart disease. Two infants had esophageal atresia. One patient had multiple anomalies including diaphragmatic hernia, polycystic kidney and sacral agenesis. One patient had cleft lip and palate.
Conclusion: DALB in the population studied is more common than published literature. Major multiple congenital anomalies are present in more than half of the cases. Maternal diabetes and consanguinity are present in the majority of the cases.