Case 1
This 6-year-old Ethiopian amhara female presented with symmetrical distal transverse deficiencies of both upper and lower limbs. She has no other syndromic features or systemic manifestations.
The patient is capable of walking with the support of orthotics. She has adapted to use her forearm for several activities including, but not limited to, eating and writing. However, speed and certain activities that require fine motion are difficult to achieve (Fig. 4).
Case history
This patient was first presented after delivery of her younger sister (case 2). Medical records about antenatal follow-up or delivery are not available. Developmental milestones have been met at the appropriate age. Further, examination of the respiratory system, cardiovascular system, and abdomen was normal.
Physical examination results
-
In the upper limbs, the patient has normal shoulder, elbow, and wrist function with transverse deficiency distal to carpal bones.
-
The child has a normal spine.
-
In the lower limbs, the patient has normal hip, knee, and ankle function with transverse deficiency distal to the hind foot (Fig. 5).
Results of other investigations
Management plan
The child has been reviewed in a pediatric orthopedic hospital. No surgical intervention is planned. While some surgical procedures are described for children who have suffered loss of hands, such as the Krukenberg procedure [5], it is felt that this will not afford this patient great additional function benefit but may be socially stigmatizing. Assistance is being received from specialist orthotists, who are working to improve walking and also providing adaptive equipment to facilitate self-care and feeding.
Case 2
This patient is a 5-month-old Ethiopian amhara female, born to the same parents as case 1. She presents with a similar clinical feature of symmetrical distal transverse deficiency of both upper and lower limbs (Fig. 1, patient 2, 5-month-old female with bilateral absence of hands and feet).
Case history
This child was monitored through antenatal follow-up until delivery at 39 weeks’ gestation.
Delivery was by spontaneous vaginal delivery, and birth weight was 2.5 kg.
The mother is 26 years old. There was no medical or obstetric complication during pregnancy or delivery. There was no history of trauma to abdomen or radiation exposure during antenatal period, and the mother was neither a smoker nor an alcoholic.
After the delivery, the patient was brought into the neonatal intensive care unit (NICU) to be evaluated for any potential congenital anomaly associated with the absence of hands and feet.
Physical examination
Clinical findings were similar to her older sister, with normal limbs other than transverse deficiency distal to the carpal bones and hindfeet. Examination of the respiratory system, cardiovascular system, and abdomen was unremarkable.
Other investigations
Ultrasound examination during pregnancy did not reveal any anomaly. Postnatal examination of the placenta was normal, and histopathology did not reveal any significant findings. Ultrasound examination at birth of abdomen and cranium was normal.
At 5 months of age, ultrasound of the abdomen was unremarkable. Echocardiography demonstrated a 1.2-mm patent ductus arteriosus (PDA) shunting left to right. Otherwise, all four valves appeared structurally normal with left ventricular ejection fraction of 72% confluent and good-sized branch pulmonary arteries, and there is no coarctation.
Management plan
This child has also been reviewed at a specialist pediatric orthopedic hospital. No surgical intervention is planned. When she begins to stand, the orthotists will assist to improve balance and facilitate walking.
Regarding the cardiac abnormality, it is expected to close spontaneously without any long-term consequences (Figs. 2, 3, 4, 5, 6).
Other details
These sisters are the only children born to these parents. However, the couple recently conceived a third child, who was terminated at 18 weeks 4 days after intrauterine ultrasound indicated the presence of similar abnormalities.
See Fig. 7 for ultrasound images of second-trimester intrauterine pregnancy at 18 weeks 3 days.
In addition, the father has two sons from a previous marriage, neither of whom have any known abnormalities.
The parents are unaware of any other family members affected in the same way. They are unwilling to disclose any consanguinity.