Case Report

A 2�-month-old female infant was brought with a history of malformed hands and feet since birth. She was first in birth order and was the third generation to be affected in succession. There was no history of consanguinity or drug intake or exposure to radiation.

Examination revealed increased thumb length in both hands and absence of nail on the left index finger. The right hand had deep cleft separating thumb and index finger and syndactyly of middle and ring fingers with a normal little finger. There was duplication of index finger at the distal interphalangeal joint. The right thumb showed two separate nails. Feet revealed deep cleft extending proximally, involving distal one third of feet with normal great toes and syndactyly of fourth and fifth toes on the right side and normal toes on the left side. Second and third toes on both sides were missing (Fig. 1z). No other abnormality was detected on detailed examination.

Fig. 1. Photograph showing lobster claw deformity of feet and right hand.

X-ray of the hands showed triphalangeal thumbs (Fig. 2). Right hand showed two additional phalanges on index finger and fusion of the middle and distal phalanges of the third and fourth fingers. X-ray feet showed normal bones of great toes along with four rudimentary phalanges on each side. Only two metatarsals on right and three on left side were seen.

Fig. 2. Roentgenogram showing triphalangeal thumbs. Two additional phalanges on index finger and fusion of middle and distal phalanges on right side.

The patient's grandmother, having normal parents, was the first to be affected. Out of her four children, two females including the patient's mother and one male were affected while the other male was normal. The mother of the child did not show typical cleft feet and hand but had polysyndactyly with missing fingers and toes.

The grandmother showed bilateral cleft feet with valgus deformity of great toes. The right hand had only three fingers which were functional. On the left hand, the index and middle fingers were missing with an extra thumb. She also had depigmented areas (vitiligo) over the hands. The uncle had typical bilateral cleft feet with valgus deformity of great toes. The right hand had two appendages on the thumb with missing index and middle fingers. The left hand had an extra thumb with valgus deformity of the index finger. Radiological examination of the patient's relatives could not be done because of their non- co-operation. The maternal aunt could not be examined as she could not be approached.

Discussion

In cleft feet, generally one or more toes and parts of their metatarsals are absent and often the tarsals are abnormal. Although, the deformity varies in degree and type, the first and fifth toes are usually present. If a meta- tarsal is partially or completely absent, its respective toe is always absent. Based on a study of the roentgenographic characteristics of 173 cleft feet (128 from the literature), the deformities were classified into six types based on the number of metatarsals present(2). Our case had type III deformity on the left side and type IV on the right side.

Barsky(1) described two types of cleft hand. One is typical cleft hand with a deep palmar cleft which separates the two central metacarpals. One or more rays are absent, and the existing digits tend to be confluent and of unequal length. In the atypical cleft hand, the central rays are absent and only short radial and ulnar digits remain with a shallow cleft. Other associated abnormalities include cleft lip and palate, reduction in number and size of the phalanges, syndactyly, polydactyly, triphalangeal thumb (as in our case). Scalp defect, genitourinary anomalies with atresia of the nasolacrimal duct and buphthalmos(3-6).

It is inherited as an autosomal dominant trait but uncommonly autosomal recessive has also been reported(7). In our study three generations were affected which is rare.

Treatment is surgical correction for improving function and appearance.

References

1. Barsky AJ. Cleft hand: Classification, incidence and treatment. J Bone Joint Surg 1964; 46: 1707-1720.

2. Beaty JH. Congenital anomalies of the lower extremity. In: Campbell's Operative Orthopedics, 9th edn. Ed. Canale St. St. Louis, Mosby-Year Book Inc, 1998; pp 928-930.

3. Preus M, Fraser FC. The lobster-claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies. Clin Genet 1973; 4: 369-375.

4. Phillips RS. Congenital split foot (Lobster claw) and triphalangeal thumb. J Bone Joint Surg 1971; 53: 247-257.

5. Adams FH, Oliver CP. Hereditary deformities in man due to arrested development. J Hered 1945; 36: 3-8.

6. Singh D, Daniel R, Verma M, Akhter Z, Beri RS. Split Hand/Split Foot Syndrome with atresia of nasolacrimal ducts and buphthalmos. Indian Pediatr 1989; 26: 1053-1055.

7. Mosavy SH, Vakushuri P. Split hands and feet. S Afr Med J 1975; 49: 1842-1844.