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 Table of Contents  
Year : 2015  |  Volume : 20  |  Issue : 2  |  Page : 193-195

A rare case of short stature: Aarskog-Scott syndrome

1 Department of Endocrinology, ESI Hospital, Sanathnagar, India
2 Department of Biochemistry, Prime Hospital, KPHB, Hyderabad, Andhra Pradesh, India
3 Department of Endocrinology, Osmania General Hospital, Hyderabad, Andhra Pradesh, India

Date of Web Publication2-Sep-2015

Correspondence Address:
Hanmayyagari Babul Reddy
Flat no-A 904, Sri Sai Ram Towers, Beside Allwyn Colony Water Tank, Hafeezpet, Hyderabad - 500 049, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-9903.164266

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How to cite this article:
Reddy HB, Guntaka M, Ramesh J. A rare case of short stature: Aarskog-Scott syndrome. J Mahatma Gandhi Inst Med Sci 2015;20:193-5

How to cite this URL:
Reddy HB, Guntaka M, Ramesh J. A rare case of short stature: Aarskog-Scott syndrome. J Mahatma Gandhi Inst Med Sci [serial online] 2015 [cited 2021 Jun 21];20:193-5. Available from: https://www.jmgims.co.in/text.asp?2015/20/2/193/164266


Aarskog-Scott syndrome was first reported by Aarskog D in 1970. This syndrome is characterized by short stature, shawl scrotum, facial abnormality, and clinodactyly. Literature review shows that the incidence of this syndrome is exceedingly rare in clinical practice and experience with the growth hormone is exceptionally limited.

A 10-year-old boy was referred to our Outpatient Department for the evaluation of short stature [Figure 1]. He was born with a third degree of consanguineous marriage, delivered by Cesarean section, first in twin pregnancy, birth weight was 2300 g, no history of any neonatal seizures, and prolonged jaundice. His motor and mental milestones were delayed. Parents observed decreased height velocity from the age of three years. There was no history of any chronic systemic disease or infections. He was poor at academics.
Figure 1: Patient with short stature (Front complete view)

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On examination, his height was 118 cm US/LSupper segment /lower segment-1, standard deviation score (SDS) was -3.2, weight 17 kg, and head circumference was 49 cm. He had triangular facies, maxillary hypoplasia, short neck, hypoplastic ear lobes, drooping shoulders, clinodactyly [Figure 2] and [Figure 3], single palmar crease, and shawl scrotum. His vitals were, pulse rate 100/mt, blood pressure (BP) 90/70 mm of Hg. Systemic examination was normal.
Figure 2: Patient with triangular facies, maxillary hypoplasia, short neck, hypoplastic ear lobes, and drooping shoulders (Front close view)

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Figure 3: Patient with short neck and hypoplastic ear lobes (Side view)

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His laboratory investigations were as follows: Hemoglobin 13 gm% (11-15), total leukocyte count 5600/cmm (4-11000), erythrocyte sedimentation rate (ESR) 15 (9-14), fasting blood sugar (FBS) 89 mg% (80-110), sr.creatinine 0.8 mg/dl (0.8-1.4), corrected serum calcium 9.2 mg/dl (8.4-10.4), T3 1.2 ng/ml (0.6-2.00), T4 8.4 mcg/ml (5-12), TSH 2.7 miU/ml (0.3-5.5), Serum Growth hormone-10.8 ng/ml (with clonidine stimulation), Insulin-like growth factor (IGF-I) 147 ng/ml (183-850), and Karyotyping 46 XY. His bone age was 10 years determined by the Greulich and Pyle chart. Psychological assessment by Binet Kamat test for intelligence showed the patient's mental age to be six years and ten months and intelligent quotient was 67, suggestive of mild mental retardation.

Department of genetics evaluated this patient with the above features of disproportionate short stature, mild mental retardation, triangular facies, maxillary hypoplasia, short neck, hypoplastic ear lobes, drooping shoulders, clinodactyly, single palmar crease, and shawl scrotum. The patient was diagnosed to have Aarskog-Scott syndrome. The patient was started on growth hormone therapy along with a Rehabilitation Program; genetic counseling of family was done. The patient is doing well on growth hormone therapy; the boy gained about 10 cm in the first year with an SDS of 2.5.

In the Aarskog-Scott syndrome (Facial-digital-genital syndrome), males are typically more severely affected than females. Diagnosis is made by clinical criteria. Primary criteria include those manifestations that are consistently present in more than 80% of the patients and the secondary criteria are those that are present in 50-70% of patients.

The primary diagnostic criteria [1] include short stature, hypertelorism, a broad nasal bridge, a short nose with anteverted nares, a long philtrum, maxillary hypoplasia with or without malocclusion, a crease below the lower lip, abnormal auricles with fleshy lobules, short and broad hands, short fifth fingers with clinodactyly, and a shawl scrotum.

Secondary criteria include widow's peak hair pattern, ptosis, downward slanting palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and mild interdigital webbing.

Other features are cleft lip and cleft palate. [2] Ophthalmological findings include strabismus, ophthalmoplegia, large cornea, esotropia, nystagmus, and amblyopia. [3] Dental findings include delayed eruption of permanent teeth, retarded dental age, hypodontia and dental malocclusion, enamel hypoplasia, [4] and overcrowded teeth. [5] Cardiac defects include pulmonary stenosis and ventricular septal defects. [6] Intelligence is reported as normal or in the mildly retarded range. [7] Reported intelligence quotient (IQ) range is 68-128. [8] Aarskog-Scott syndrome is expressed partially in girls.

Mode of inheritance is X-linked recessive in most cases, [7] and rarely autosomal dominant. [9] Mutations in faciogenital dysplasia gene (FGD1) have been mapped to chromosome Xp11.21. [10] But mutations in other genes have been reported as well.

In the literature, the incidence of this syndrome is exceedingly rare and experience with the growth hormone is exceptionally limited. [11] A series of 19 (16 male) Aarskog-Scott patients were treated with growth hormone given at a dose of 0.3 ± 0.07 mg/kg/week over 1.4 to 8.8 years. Height SDS increased by 1.0 ± 0.8 over a mean of four years of therapy started at a mean age of 10.5 years. Patients (n = 6) who completed the growth hormone treatment gained a median height SDS of 1.2 (0.3-2.8). The median final height was 167.8 cm, ranging from 160 to 170.2 cm. There were no side effects, except for gynecomastia and hepatomegaly in one case.

The Aarskog-Scott syndrome is a rare genetic disorder characterized by short stature, shawl scrotum, facial abnormality, and clinodactyly. Diagnosis is made by clinical criteria. There is currently no known cure for the Aarskog-Scott Syndrome. It needs supportive and rehabilitative treatment for various manifestations. Growth hormone therapy helps in augmentation of the short stature.

Financial support and sponsorship

We are thankful to Pfizer team for their support in gathering literature on this rare syndrome.

Conflicts of interest

There are no conflicts of interest.

  References Top

Teebi AS, Rucquoi JK, Meyn MS. Aarskog syndrome: Report of a family with review and discussion of nosology. Am J Med Genet 1993;46:501-9.  Back to cited text no. 1
Hoo JJ. The Aarskog (facio-digito-genital) syndrome. Clin Genet 1979;16:269-76.  Back to cited text no. 2
Brodsky MC, Keppen LD, Rice CD, Ranells JD. Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome. Am J Ophthalmol 1990;109:450-6.  Back to cited text no. 3
Melnick M, Shields ED. Aarskog syndrome: New oral-facial findings. Clin Genet 1976;9:20-4.  Back to cited text no. 4
Dayal PK, Chaudhary AR, Desai KI, Joshi HN. Aarskog syndrome. A case report. Oral Surg Oral Med Oral Pathol 1990;69:403-5.  Back to cited text no. 5
Fernandez I, Tsukahara M, Mito H, Yoshii H, Uchida M, Matsuo K, et al. Congenital heart defects in Aarskog syndrome. Am J Med Genet 1994;50:318-22.  Back to cited text no. 6
Aarskog D. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 1970;77:856-61.  Back to cited text no. 7
Logie LJ, Porteous ME. Intelligence and development in Aarskog syndrome. Arch Dis Child 1998;79:359-60.  Back to cited text no. 8
Grier RE, Farrigton FH, Kendig R, Mamunes P. Autosomal dominant inheritance of the Aarskog syndrome. Am J Med Genet 1983;15:39-46.  Back to cited text no. 9
Pasteris NG, Cadle A, Logie LJ, Porteous ME, Schwartz CE, Stevenson RE, et al. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor. Cell 1994;79:669-78.  Back to cited text no. 10
Petryk A, Richton S, Sy JP, Blethen SL. The effect of growth hormone treatment on stature in Aarskog syndrome. J Pediatr Endocrinol Metab 1999;12:161-5.  Back to cited text no. 11


  [Figure 1], [Figure 2], [Figure 3]


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