Baby AA, female, was born at 40weeks gestation by emergency caesarean section for unanticipated breech in labour. Mother was an unbooked 25 year old primipara, who had no hospital antenatal care. She denied family history of any skeletal abnormalities. Baby's father was a 35year old civil servant. Mother had no major illness and was relatively well during pregnancy. She routinely used daily herbal medicines throughout pregnancy. Baby cried immediately after birth, with an Apgar score of 7 and 9 at 1 and 5 minutes respectively.

Examination of the baby at four hours of life, revealed a small for gestational age baby, weighing 2kg, she was 41cm in length, below the third percentile for gestational age. She was pink, afebrile and not in respiratory distress. Her head however appeared disproportionately large, with occipitofrontal diameter of 34cm, normal for gestational age. Both lower and upper limbs were short, irregular and curved medially. Extra digits were present on the little fingers of both hands.

The central nervous system examination revealed a baby with good cry and normal neonatal reflexes. Both anterior and posterior fontanelles were palpable, soft, and the sutures were slightly widened.

There were no relevant abnormal findings on examination of the cardiovascular and gastrointestinal systems. A clinical diagnosis of osteogenesis imperfecta was made. Other investigations done included a skeletal survey, full bood count, PCV, WBC and differentials, electrolyte, urea, creatinine, serum calcium, phosphate and alkaline phosphatase (218 IU/L). Of these, only serum calcium and phosphate levels were low, at 1.76 mg/dl and 2.0mg/dl respectively.

Radiographic examination confirmed the diagnosis of osteogenesis imperfecta.

The x-ray of the skull showed bone rarifaction in almost all regions (Fig 1).

Figure 1

Figure 1: Lateral view of the Skull showing severe osteopenia and the skull vault is hardly demonstrated

The rib cage appeared irregular especially on the left, with multiple fractures at different stages of healing.

Both upper and lower limbs show multiple fractures with excessive callus formation (Fig 2).

Figure 2

Figure 2: AP view of the lower limbs, showing Genu varum and multiple fractures in the femur, tibia and fibula

The long bone ends are flared and all of them appear short and irregular in outline. The distal long bones were bowed.

The spinal column was normal.

Follow up clinic two weeks later, showed the baby had developed bluish sclera. She was however lost to follow up.

Baby O, female, presented on the fourth day of life at the Neonatal out Patient clinic with abnormal, short limbs and an umbilical defect since birth. There was no known person with similar problem in the immediate extended family or past generation.

She was born at term by spontaneous vaginal delivery, at a private hospital. Antenatal care, which she attended sporadically, was at the same hospital. The mother had a febrile illness during the first trimester which was diagnosed as malaria. She was on herbal medication during pregnancy. Labour was uneventful. Baby cried immediately after birth, with an Apgar score of 8 and 9 at 1 and 5 minutes respectively.

At presentation, baby was active, afebrile, with quiet normal respiration. Birth weight was 2.2kg and head circumference was 31.0cm. Baby appeared abnormal with deformed limbs, disproportionately short and curved upper and lower limbs.

Central Nervous System examination was normal with primitive neonatal reflexes intact. There were no abnormalities on examination of the respiratory and cardiovascular systems. The abdominal examination revealed a small defect on the right side of the umbilicus of 1.5x2.0cm, with herniation of the intestine. It was covered by a septic membrane, for which she had been receiving antibiotics.

A clinical diagnosis of Osteogenesis imperfecta with omphalocoele was made.

Laboratory investigations including, full Blood count, PCV, WBC and differentials, blood film and electrolyte and urea were all normal. The ESR, serum calcium ( 10mg/dl ), phosphate ( 8mg/dl ) and alkaline phosphatase (266 IU/L ) were normal.

Skeletal Survey showed severe generalized osteoporosis.

X-ray of the skull revealed a very thin vault which could hardly be differentiated from soft tissue.

X-ray of the chest, anteroposterior view revealed multiple rib fractures at different stages of healing, with excessive callus formation. The ribs therefore appeared irregular. Lung fields were clear and heart appeared normal.

There were multiple fractures in the upper and lower limbs long bones, with excessive callus formation and irregularity of their outlines (Fig 2).

An overlying soft tissue mass over the pelvis was consistent with the omphalocoele.