Aarskog syndrome A case report

P. K. Dayal, BSc, BDS, MDS, FICD, FRSH,O A. R. Chaudhary, BDS, MDS,b K. I, Desai, BDS, MDS,’ and H, N. Joshi, BDS,d Ahmedabad, India

DEPARTMENT OF ORAL DIAGNOSIS AND DENTAL RADIOLOGY, GOVERNMENT DENTAL COLLEGE

AND HOSPITAL. AHMEDABAD

A rare Aarskog syndrome is reported in a 12-year-old boy. The patient had a triad of characteristic

symptoms consisting of short stature, genital anomaly, and unusual facies. Both jaws were hypoplastic with presence of crowded permanent teeth and over-retained deciduous teeth. Radiographic examination of

teeth showed taurodontism. which has not been reported previously. (ORALSURGORALMEDORALPATHOL 1990;69:403-5)

A arskog’ in 1970 first described a rare familial syndrome that was characterized by short stature, genital anomalies, and unusual facies. Scott* in 1971 described the same syndrome. This syndrome is now known as Aarskog syndrome.3-6 The mode of trans- mission appears to be either X-linked recessive inheritance, in which the female heterozygote tends to be short and may exhibit minor stigmata, or autosomal dominant inheritance with male sex limi- tation. This syndrome predominantly affects the musculoskeletal system, resulting in short stature, unusual facies, and abnormalities of the spine and limbs. Genital anomalies consist of undescended testes and bifid scrotum.’ Facies are characterized by a broad forehead with prominent ridging of the metopic suture, ocular hypertelorism with ptosis of the upper eye lids, a short stubby nose with ante- verted nostrils, and a broad, nondepressed nasal bridge.’

Five cases of Aarskog syndrome have been re- ported in the literature. An additional case is report- ed with the additional feature of taurodontism.

CASE REPORT

A 12-year-old Indian boy came to the Oral Diagnosis Clinic of the Government Dental College and Hospital, Ahmedabad, with the chief complaint of crowded front teeth in both jaws.

The patient appeared short in stature for his age. On

“Assistant Professor of Oral Diagnosis and Dental Radiology. bFormer postgraduate student. ‘Tutor in Oral and Maxillofacial Surgery. “Former tutor in Oral Diagnosis and Dental Radiology. 7/17/11401

further examination, it was noted that he had abnormal facies evident as a large head with frontal bossing, a slight gap in the fontanelle, a triangular point of scalp hair (widow’s peak), low-set ears, hypertelorism, a stubby nose with broad bridge, and anteverted nostrils (Fig. 1, A and B).

Intraoral examination revealed that both jaws were hypoplastic and that the teeth were crowded anteriorly. Seventeen deciduous teeth were retained in the maxilla and the mandible (Fig. 2). The following dentition was present.

Permanent dentition: 11, 13, 16, 21, 23, 32, 33, 36, 42, 43 (3, 6, 8, 9, 11, 19, 22, 23, 26, 27).

Deciduous dentition: 52, 53, 54, 55, 63, 64, 65, 71, 72, 73,74, 75,81,82,83, 84,85 (A, B, C, D, H, 1, J, K, L, M, N, 0, P, Q, R, S, T).

The patient’s medical history revealed prior surgery to correct his depressed nasal bridge. During the taking of history, the patient’s father stated that the patient’s genital organ was very small. Examination revealed the base of the penis buried in the scrotal skin fold and undescended testes (Fig. 3).

On further general examination of the patient, it was observed that his feet were small (Fig. 4, A). The terminal phalanges of all fingers and the middle phalanx of the fifth finger of both hands were hypoplastic (Fig. 4, B).

Radiographic examination of the teeth showed enlarged pulp chambers and short roots. suggesting taurodontism (Fig. 5, A and B).

A diagnosis of Aarskog syndrome (facial-digital-genital syndrome) was made. The patient did not permit the extraction of retained deciduous teeth or orthodontic treatment.

DISCUSSION

The diagnosis of Aarskog syndrome was made after observation of three characteristic features as

403

404 Dayal et al ORAL SURG ORAL MED ORAL PP .TFIOI.

MaI xh 1990

Fig. 1. Abnormal facies of 12-year-old boy with karskog syndrome. A, Frontafview. B, Profile view. Note frontal bossing, widow’s peak, low-set ears, mandibular prognathism, ocular hypertelorism, and stubby nose with broad and anteverted nostrils.

Fig. 2. Intraoral photograph of patient showing crowded teeth with over-retention of deciduous teeth.

described by various authors, namely, short stature, rudimentary genital organ, and unusual facies.Ie6 The characteristic facies of a large head with frontal bossing, a slight gap in the fontanelle, widow’s peak, low-set ears, hypertelorism, and stubby nose with broad bridge and anteverted nostrils is consistent with Aarskog syndrome.

Short stature is one characteristic of Aarskog syndrome. Although the size of the body may be normal at birth, retardation of growth usually becomes evident between the ages of 2 and 4 years. Adults rarely exceed 160 cm (five feet, three inches) in height. Musculoskeletal anomalies may affect the jaws, the hands, the feet, and the spine. The maxilla becomes hypopiastic and narrow, resulting in a relative mandibular prognathism.5,6 In the patient reported on, both jaws were hypoplastic, resulting in crowding of the permanent and the retained decidu- ous teeth. The patient had small hands and feet.

Fig. 3. Genital organ of patient (sketched). Note that it is rudimentary with base of penis burrowed in the scrotal skin fold. (Adapted from Gorlin RJ, Pindborg JJ, Cohen M. A textbook of syndromes of the head and neck. New York: McGraw-Hill, 1976.)

Various authors have described small hands and feet, short fifth fingers, mild cubitus valgus, internal tibia1 torsion, metatarsus varus, pigeon-toed gait, pes plan- us, “tree frog toes,” pectus excavatum, and hyperex- tensibility of interphalangeal joints as the features of Aarskog syndrome.* In the present case, the terminal phalanges of all fingers, as well as the middle phalanx of the fifth finger, were hypoplastic.

Volume 69 Number 3

Aarskog syndrome 405

A. -

Fig. 4. Feet (A) and hands (B) of patient are small. Note the hypoplasia of all the terminal phalanges and middle phalanx of the fifth finger.

The patient’s penis was rudimentary with the penile base imbedded in the scrotal fold ventrally. The testes had not descended into the scrotum. This is the characteristic genital anomaly found in Aars- kog syndrome and presents as a scrotal fold around the base of the penis, described as resembling a shawl thrown around the neck. One or both testes are reported as undescended in about 65% of reported cases3

A feature that has not been previously reported is taurodontism. This feature could be an associated expression of recessive inheritance. Mangion’ refers to possible causes of taurodontism as a specialized or retrograde characteristic, a primitive pattern, a men- delian recessive trait, an atavistic feature, or a mutation resulting from odontoblastic deficiency during dentinogenesis of the roots. A genetic history was unavailable in the case reported here.

SUMMARY

A rare Aarskog syndrome is reported in a 12- year-old boy. The patient demonstrated the triad of characteristic symptoms consisting of short stature, genital anomaly, and unusual facies. The oral fea- tures included hypoplastic maxilla and mandible with the presence of crowded permanent teeth and numerous over-retained deciduous teeth. Radio-

Fig. 5. Intraoral radiographs of teeth of patient showing taurodontism. A, Upper anterior teeth. B, Lower posteri- or teeth.

graphic examination of the teeth provided evidence of taurodontism, which has not been previously reported in Aarskog syndrome.

REFERENCES

1. Aarskog D. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 19lQ;ll:856-61.

2. Scott Jr CJ. Unusual facies, joint hypermobility, genital anomaly, and short stature. A new dysmorphic syndrome. Birth Defects 1971:7:240-6.

3. Gorlin RJ, Pindborg JJ, Cohen M. Textbook of syndromes of the head and neck. New York: McGraw-Hill Book Co, \976:1-3.

4. Berman P, Desjardins C, Fraser FC. Inheritance of the Aarskog syndrome. Birth Defects 1974;10:151-9.

5. Kunze J, Spranger J. Aarskog syndrome. Klin Pediatr 1973;185:490-4.

6. Furukawa CT, Hall BD, Smith DW. The Aarskog syndrome. J Pediatr 1972;81:1117-22.

7. Mangion JJ. Two cases of taurodontism in modern human jaws. Br Dent J 1962;l 13:309-12.

Reprint requests to:

Dr. Promod Kumar Dayal Assistant Professor Oral Diagnosis, Oral Medicine, and Dental Radiology Govt. Dental College and Hospital Ahmedabad-380016. India