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A CHILD WITH TWO TONGUES (ORAL-FACIAL-DIGITAL SYNDROME) By R. C. BELL, F.R.C.S. Shotley Bridge GeneralHospital, Shotley Bridge, Co. Durham PAUL was born on 26th October 1965 with two tongues and a cleft palate. When 3 months old he was examined under anaesthesia with the intention of uniting the tongues which moved independently, but the operation appeared formidable in so small a child and the procedure was postponed. A series of tape recordings were made at three-monthly intervals to study the development of speech, two other children with cleft palates of similar age and family FIG. I Fig. 2.--A view showing most of the two tongues and less of the septal swelling. (Aged 3 months.) backgrounds being used as controls, but as the months passed, it became apparent that Paul was mentally retarded, and the series was abandoned. When 8 months old a radio-active iodine test showed an absence of thyroid in the neck, and active thyroid tissue in the floor of the mouth, but with a function only half the normal for a child of his age. This deficiency was treated with o.o 5 rag. thyroxine three times per day. On 27th January 1967 when he was r 5 months old the cleft palate was repaired. This required the removal of part of a white swelling in the lower edge of the nasal septum ; later shown by biopsy to consist of squamous epithelium covering coUections of mucous glands in the submucosa, separated by fibro-fatty tissue (Fig. r). A band also stretched from the medial side of the left tongue upwards and backwards to the anterior fauces of the right tonsil (Fig. 2, arrowed). 2 F I93

A child with two tongues: Oral-facial-digial Syndrome

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A CHILD WITH TWO T O N G U E S (ORAL-FACIAL-DIGITAL SYNDROME)

By R. C. BELL, F.R.C.S.

Shotley Bridge General Hospital, Shotley Bridge, Co. Durham

PAUL was born on 26th October 1965 with two tongues and a cleft palate. When 3 months old he was examined under anaesthesia with the intention of uniting the tongues which moved independently, but the operation appeared formidable in so small a child and the procedure was postponed.

A series of tape recordings were made at three-monthly intervals to study the development of speech, two other children with cleft palates of similar age and family

FIG. I

Fig. 2.--A view showing most of the two tongues and less of the septal swelling. (Aged 3 months.)

backgrounds being used as controls, but as the months passed, it became apparent that Paul was mentally retarded, and the series was abandoned.

When 8 months old a radio-active iodine test showed an absence of thyroid in the neck, and active thyroid tissue in the floor of the mouth, but with a function only half the normal for a child of his age. This deficiency was treated with o.o 5 rag. thyroxine three times per day.

On 27th January 1967 when he was r 5 months old the cleft palate was repaired. This required the removal of part of a white swelling in the lower edge of the nasal septum ; later shown by biopsy to consist of squamous epithelium covering coUections of mucous glands in the submucosa, separated by fibro-fatty tissue (Fig. r). A band also stretched from the medial side of the left tongue upwards and backwards to the anterior fauces of the right tonsil (Fig. 2, arrowed).

2 F I93

I94 BRITISH JOURNAL 017 PLASTIC SURGERY

Microscopy showed this to contain mixed salivary gland tissue. Paul's further development was retarded, the various milestones lagging behind

those of a normal child ; but the posterior part of the tongue appeared to grow more

FIG. 3

FIG. 6

than the anterior, and by the time he was 4 years old, the separate tongues of the infanl had become one tongue bifid in its anterior half, though each maintained power oJ independent movement.

A CHILD WITH TWO TONGUES 195

On 21st November 1969 the bifid tongue was united in the midline by a simple excision of mucosa, and union of muscle with catgut sutures.

After the operation the mother felt that the child's speech had improved, but other observers limited the benefit to his appearance, relatives no longer being embarrassed when the child opened his mouth. Speech was incomprehensible to strangers, seemingly associated with mental retardation rather than anatomical abnormality.

Addi t ional In fo rma t ion . - - ( a ) During the whole of pregnancy the mother was given phenelzine dehydrogen sulph. (Nardil) 15 mg. three times per day. (This has been reported to the Council for Safety of Drugs, who did not feel that it had any bearing on the condition of the child.)

(b) The mother suffered from toxa~mia during the last three weeks of pregnancy. (c) Paul was a second child, his IS-year-old brother was normal. (d) A chromosome analysis performed in October 1966 was normal, the karyotype

being 46 × Y (lymphocyte culture). (e) Reiter protein C.F.T., standard Kahn and Kahn dispersion tests performed on

3rd June 1966 were all negative. ( f ) X-ray examination of the wrists and elbows on 3rd June 1969 compared with

films taken in 1966 showed normal development.

DISCUSSION

in 1954 Papillon-Ldage and Psaume described eight cases of an oral-facial-digital syndrome attending a cleft palate clinic in Paris. The defects found in the series were :

Oral: Cleft or lobulated tongue, hmmarthus, short frenum, cleft palate, high vaulted palate, teeth irregular, absent or supernumerary.

Facial : Hypertelorism, flattened maxillm, prominent epicanthic folds. Skull : Cranial hypoplasia. Digital : Polydactyly, syndactyly, brachydactyly, abnormal finger print patterns. Other stigmata : Mental retardation, skull abnormalities, tremor, dry skin. lXlo chromosome abnormalities were detected.

Most authors stress that the deformities are very variable with many incomplete ~orms--4 o per cent have no digital features, about 5 ° per cent no facial deformities, and ~nly 3 ° to 5 ° per cent are mentally defective. The condition is usually familial and occurs almost exclusively in females. (Apparently the defects are so severe in males ~hat they fail to survive.)

Paul's condition appears to fall within the oral-facial-digital syndrome, though ~:here are atypical features :

I . Occurrence in a male. (Three others have been reported.) 2. No family history of affected relatives. 3. Lack of facial and digital components. 4. Hypothyroid function and ectopic thyroid position has not been previously

recorded.

Surgically, the main interest in Paul's condition is that an apparently difficult operation in a child of 3 months became trivial by his fifth year.

The author wishes to thank Dr J. M. Stansfeld for making his detailed pcediatric notes available for study, and for help with the bibliography ; Dr John Gray for the karyotype estimation ; ~Professor R. D. Lockhart for suggesting the presence of a lingual thyroid ; Dr F. T. Farmer for the

196 BRXTISH JOURNAL OF PLASTIC SURGERY

radio-active iodine study which Iocalised thyroid tissue in the floor of the mouth ; Dr G. T. Holroyd for serial X-rays of wrists and elbows to show normal bone development ; Miss P. A. E. Grady for her painstaking serial tape recordings of three young children ; and Mr R. IF. Ridley for his skilful cine-photography.

REFERENCES

CURTIN, J. W. (1964). Plastic surgical correction of the oral-facial-digital syndrome. Plastic and Reconstructive Surgery, 34, 579-589.

DODGE, J. A. and KERNOHAN, C. D. (1967). Oral-facial-digital syndrome. Archives of Disease in Childhood, 42, 214-219.

DOEGE, T. C., THULINE, H. C., PRIEST, J. I'-I., NORBY, D. E. and BRYANT, J. S. (1964). Studies of a family with the oro-facial-digital syndrome. New England Journal of Medicine, 271, lO73-1o78.

GORLIN, R. J. and PSAUME, J. (1962). Orodigitofacial dysostosis. A new syndrome. Journal of Pediatrics, 6I, 520-530.

HOOFT, C. and JONGBLOET, P. (1964). Syndrome oro-digito-facial chez deux fr~res. Archives fran~aises de pddiatrie, 21, 729-740.

KIJSHNICK, T., MASSA, T. P. and BAUKEMA, R. (1963). Orofaciodigital syndrome in the male : case report. Journal of Pediatrics, 63, 113o-1134.

PAPILLoN-L~AGE, and PSAUME, J. (1954). Dysmorphie des freins buccaux. Actualitds odonto-stomatologiques, 25, 7.

I~UESS, A. L., PRUZAhlSKY, S., LIS, E. F. and PATAU, I(. (I962). The oral-facial-digital syndrome. Pediatrics, 29, 985-995-