Aglossia-Adactylia

ROBERT G. HOWARD, M.D. 0. JAMES HURT, M.D.


Summary

An unusual case of aglossia-adactylia is presented with all its ramifications of diagnosis, treatment, and long-term care of a developing child. This case makes all of us aware of the continuing need for a strong state program to coordinate services for handicapped children. Affiliated with that program must be all the private and public institutions that are supportive of the biomedical scientist in his quest to give care.

Introduction

Aglossia-adactylia is a very unusual syndrome requiring long-term care and treatment with coordinated services delivered by several disciplines. The child reported in this article had the good fortune of being eligible for health care under the auspices of a State Program for Physically Handicapped Children. Since the child's parents are of modest means, it is highly probable that only through such an agency could he and his parents have received a coordinated approach to meeting his health needs. The roles and functions of the various state programs (Title V, Social Security Act 1935) for handicapped children are discussed elsewhere. Our experience with this child is one small step toward the great goal: Every child who has a chronic handicapping disease or disorder should have access to comprehensive care1.

The syndrome of aglossia-adactylia has been reviewed recently2. Most cases have hypoplastic mandibles, gum abnormalities, poor dentition, fusion of intraoral structures, and absence of the tongue. Defects of the digits and limbs are also a part of the syndrome. Intelligence is usually normal and speech, though defective, is intelligible. Because so few cases have been reported, no inheritance pattern has been delineated.

Case Report

The patient, B.L.M., was born January 2, 1965, after 37 weeks gestation. Birth weight was 2.38 kg (5 lbs. 3 oz.). The pregnancy and delivery passed without complications, and the only drugs taken as prescribed by a physician were vitamins and empirin. Family history is negative for congenital defects. There was no history of X-rays. Multiple congenital anomalies of the head and extremities were noted at birth:

  1. Microstomia, absence of the tongue, abnormalities of the oral structures (Figure 1 and Figure 2 ).
  2. Apodia, right lower limb (Figure 3 ).
  3. Transverse hemimelia (knee disarticulation) of left lower limb (Figure 3 ).
  4. Short transverse hemimelia (below elbow) of left upper limb (Figure 4 ).
  5. Partial aphalangia (Figure 4 and Figure 5 ).

Acute respiratory distress following birth necessitated a tracheotomy. No known undesirable sequelae followed this procedure.

In general the patient's physical growth and development have been within normal limits, with his height at the 16th percentile and his head circumference at the 50th percentile for his age. Psychological examination on October 11, 1972, using the Columbia mental maturity scale and selected parts of the Stanford-Binet LM, showed that he had a mental age of 7-0 with an I.Q. of 90. In view of the handicaps this was considered a minimal score. He attends a regular elementary school and has made a satisfactory adjustment despite failures of the school system to cope with the educational problems which a child with such chronic physical handicaps presents.

Discussion

Over the ensuing years this patient has required care and treatment by a number of health specialists.

Orthopedic surgical care and treatment consisted of a below-elbow amputation of the left upper limb with a 7.6-cm (3-in.) stump, a below-knee amputation of the right leg with a 14.6-cm (5 and 3/4-in.) stump, and an above-knee amputation on the left giving a 22.9-cm (9-in.) stump. Prostheses have been fitted to all but the right upper limb (Figure 6 ). He is quite remarkable in his ability to walk, and he has excellent use of the upper-limb prosthesis.

Repeated audiological examinations indicate normal hearing even though he has had recurrent ear infections and on one occasion had tubo-myringotomies.

Speech therapists continue to evaluate his moderately severe articulatory disorders. Isolated word production is often fairly adequate, but connected speech deteriorates considerably unless he proceeds slowly. Language comprehension appears to be within adequate limits.

X-ray studies reveal a hypoplastic mandible without any abnormalities of the temporomandibular joints. This child is unable to perform the open-mouth maneuver so that actual motion at the joint surface can be evaluated.

In the future, hand surgery may be beneficial in reconstructing a grasp unit on his right hand. The plastic surgeons will await further growth before considering any oral-facial surgery. Dental care has been limited to preventive care because of the rigid temporomandibular joint.

Cardiac evaluation revealed a normal heart, and IVP was also normal. Chromosomal studies were reported as normal male Karyotype (46 xy).

Persistent follow-up hopefully will make it possible to study other parameters such as his sense of smell and taste as well as aspects of his growth and development during adolescence.

References:
1. Hall, Byron, Aglossia-Adactylia. Birth Defects; Original Article Series, 11:7:233-236, June 1971.

2. McPhillips, Regina (ed), National Conference of State Directors for Crippled Children
Proceedings. Johns Hopkins University, p. 121, December 1974.