Rehabilitation of a Patient with the de Lange Syndrome

Charles H. Epps, Jr., M.D.


In 1933 Cornelia de Lange1 of Amsterdam described a patient with a syndrome characterized by typical fades, hirsutism, limb abnormalities, mental retardation, short stature, and a low-pitched growling cry. In the recent medical literature several comprehensive reviews have been presented by Ptacek et al.5, McArthur and Edwards4, Jervis and Stimson2, Lambert3 and Silver6. This paper reports another typical case of the de Lange syndrome with an account of the surgical conversion of an anomalous lower extremity and prosthetic rehabilitation.

Case Report

This Negro female was born after a 37-week gestation and weighed 4 lb., 2 oz. The mother was 20 years of age and the father 26 years of age at the time of her birth. This was the first pregnancy and it had been uneventful except for poison-oak infection during the second month. Labor and delivery were uncomplicated. The child was reported to have breathed and cried spontaneously and remained in an incubator for three weeks. There was a maternal history of polydactylism.

She was first seen at the Handicapped and Crippled Children's Unit at the age of 17 months. Her face was devoid of expression and she exhibited retarded psychomotor characteristics.

Physical examination revealed a low forehead. The eyebrows were bushy and confluent in the midline. The eyelashes were long and thick. She showed hypertelorism and there was evidence of chronic conjunctivitis. The nostrils were upturned and glaring and there was rhinorrhea. Her mouth was crescent-shaped due to downturning of the angles with a small triangular "beak" in the midline of the upper lip ( ). The skin showed extreme hirsutism with hair extending low onto the neck, forehead, and lateral face. Fine lanugo hair covered the back, shoulders, and extremities. Long hair covered the back ( ).

The neck was short and there was suggestion of webbing. Slight kyphoscoliosis was present in the thoracic region.

The right upper arm was shortened and the forearm revealed a terminal paraxial hemimelia, ulna, with a single finger. The left upper extremity revealed a shortened humeral segment with terminal paraxial hemimelia, ulna, and two fingers ( and ). The right lower extremity revealed a terminal paraxial hemimelia, tibia, with absence of the great toe and the corresponding ray ( ). The left foot was complete except for absence of the phalanges of the third toe (aphalangia). Both elbows demonstrated severe flexion deformities.

On November 8, 1963, when the child was 21 months of age, the right lower extremity was surgically converted to a knee-disarticulation amputation stump. The wound healed satisfactorily. Postoperatively the stump exhibited flexion and abduction deformities which responded to stretching. A temporary plaster pylon was fitted and a standing table was utilized to promote standing balance.

The formal prosthesis (pylon-type) with a plastic socket, pelvic band, and SACH foot was fitted on January 20, 1964. Psychological testing at 25 months of age revealed mental function at a five-month level. Training efforts continued and the girl was able to stand with minimal support by June 1964. In October 1965, progress was slowed by an undisplaced fracture of the right femur which, however, healed without difficulty.

Using a Preston walker with casters, she was able to ambulate by July 1966 ( ). Speech continued to be retarded and utterances were limited to a few words or short phrases. It was not until April 1967 that the child was able to walk independently without any support. The prosthesis used was still a pylon type without an articulated knee and she walked on a wide base. One year later in June 1968 a knee joint was fitted when the old prosthesis was replaced.

When the patient last visited the clinic in June 1970 she continued to manifest limited speech and was not toilet-trained. She was entirely independent as regards ambulation except for applying and removing the prosthesis.

Discussion

This patient with the de Lange syndrome exhibited the severe mental retardation and many of the physical characteristics of this condition that have been described by others. A number of striking anomalies of the extremities have been described in the literature including: small hands, short tapering fingers and incurving of the fifth fingers; the thumbs proximally placed and transverse palmar ("simian") lines present; absence of one or more fingers; hypoplasia of the dermal ridges of the palms and soles; short forearms frequently limited by flexion contractures at the elbows; and increased range of motion of the fingers. The feet have been described as being small with partial cutaneous syndactyl of the second and third toes and some downward displacement of the second, third, and fourth toes6.

Of interest in our patient was the presence of longitudinal deficiencies in the upper extremities and a longitudinal deficiency of the tibia in the right lower extremity that required surgical conversion. The left foot deficiency involved only one toe.

Although the conversion of the right leg was done at the chronological age of 21 months, the patient did not achieve true independent ambulation until the age of 64 months, or about 51.2 years. This fact alone indicates the severe degree of neuromuscular retardation. The mental retardation was no less marked and was manifested at the age of 8 1/2 years by speech limited essentially to single words with a few short phrases, and absence of toilet-training. At one point the IQ was estimated to be less than 25.

Considerable credit must be given the family for the child's ambulatory achievements. Both parents were instructed initially in techniques to encourage balance and this instruction was followed by education in the techniques required to stimulate a reciprocal pattern and eventually actual gait-training. It is interesting to speculate on the fate of this patient had she been institutionalized as an infant. It is no less interesting to speculate on her future.

Summary

A case of the de Lange syndrome with characteristic facial features, mental retardation, hirsutism, low-pitched growling cry and limb abnormalities has been presented. This case also had a tibial hemimelia which was corrected surgically to a knee-disarticulation-type amputation stump and fitted successfully with a prosthesis.

Charles Epps is Clinic Chief, Juvenile Amputee Clinic Bureau of Maternal and Child Health Handicapped and Crippled Children's Unit District of Columbia General Hospital Washington, D.C.

References:
1. de Lange, C, Sur un type nouveau de defeneration (Typus Amstelodamensis), Arch, de med. d. enf.,36:713, 1933. 
2. Jervis, G. A., and C. W. Stimson, de Lange syndrome, J. Pediat., 63:634, Oct. 1963. 
3. Lambert, C. A., The Cornelia de Lange syndrome, Inter-Clin. Information Bull., 7:10, 1967. 
4. McArthur, R. G., and J. H. Edwards, de Lange syndrome: Report of 20 cases, Canad. Med. Assoc. J., 96:1185, 1967. 
5. Ptacek, Louis J., J. M. Opitz, D. W. Smith, et al., The Cornelia de Lange syndrome. The "Amsterdam" type of mental defect with congenital malformation, J. Pediat., 63:1000-20, Nov. 1963. 
6. Silver, H. K., The de Lange syndrome, Am. J. Dis. Children, 108:523, 1964.