Acrodysostosis : Autosomal Been Published in the Literature(1)
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CASE REPORTS Clin North Am 2000; 47: 1253-1274. 5. Rosen FS. Severe combined immuno- deficiency: A pediatric emergency. J Pediatr 2. Stephan JL, Vlekova V, Le Deist F, Blanche S, 1997; 130: 324-325. Donadieu J, De Saint-Basile G et al. Severe combined immunodeficiency: a retrospective 6. Macchi P, Villa A, Giliani S, Sacco MG, single-center study of clinical presentation and Frattini A, Porta F, et al. Mutations of JAK-3 outcome in 117 cases. J Pediatr 1993; 123:564- gene in patients with autosomal severe 572. combined immune deficiency SCID. Nature 3. Altare F, Lammas D, Revy P, Jouanguy E, 1995; 377: 65-68. Doffinger R, Lamhamedi S, et al. Inherited 7. Glanzmann E, Riniker P. Essentielle interleukin- 12 deficiency in a child with lymphocytophthise: Ein neues Krankheitsbild Bacille Calmette – Guerin and Salmonella aus der Säuglingspathologie. Ann Paediatr enteritidis disseminated infection. J Clin Invest 1950; 175: 1-32. 1998;102: 2035-2040. 8. Fasano MB. Risks and benefits of intravenous 4. Buckley RH, Schiff RI, Schiff SE, Market L, immunoglobulin treatment in children. Curr Williams LW, Harville TO, et al. Human Opin Pediatr 1995; 7: 688-694. severe combined immunodeficiency: genetic, phenotypic and functional diversity in one 9. Gunn VL, Nechyba C. Immunlogic reference hundred eight infants. J Pediatr 1997; 130: values in Harriet Lane Handbook. !6th ed. 378-387. Mosby, St. Louis, 2002: 313. Acrodysostosis : Autosomal been published in the literature(1). Though Dominant Transmission most case reports have occurred sporadically, it is believed to be an autosomal dominant condition. In this report we are presenting the Sheela S.R. first case with autosomal dominant inheritance Ajai Perti* pattern of acrodysostosis from India. Grace Thomas Case Report A 2½-year-old male child with psycho- We describe a 2½-year-old male child with motor delay was referred for evaluation. He acrodysostosis, presenting with nasal hypoplasia, was born to a 24-year-old primigravida mother peripheral dysostosis (gross shortening of hands and and a 37-year-old father and weighed 2500 g at feet), cone-shaped epiphysis, advanced bone age, and birth. There was no history of consanguinity. mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance From Departments of Pediatrics and *Radiology, pattern. Indira Gandhi Co-operative Hospital, Kadavan- thra, Cochin 682 020, Kerala, India. Key words: Acrodysostosis, Peripheral dysos- Correspondence to : Dr. Sheela SR, G-79, Ujjayini, tosis, First ray hyperplasia of foot. Pahampillay Nagar, Cochin 682 036, Kerala, India. Acrodysostosis is a rare skeletal dysplasia, Manuscript received: July 2, 2004; first described by Maroteaux and Malamut in Initial review completed: September 9, 2004; 1968, and since then around 40 cases have Revision accepted: March 2, 2005. INDIAN PEDIATRICS 822 VOLUME 42__AUGUST 17, 2005 CASE REPORTS A chromosomal evaluation showed a normal (Fig. 1). The striking feature was the short 46-XY pattern. He started to walk by 2 years stubby fingers with short and broad hands and of age and is presently able to run about wrinkling of the skin of the dorsum of the and says 4-5 monosyllables. Evaluation by hands, and bilateral simian creases. The toes Washington’s scale showed a receptive were also short but in contrast to that he had language of 16 months asd expressive hypertrophied great toes bilaterally. The nails language of 13 months. were broad on all fingers and toes. Height of the child was 88cm (<25th A detailed skeletal survey showed broad centile) and whereas weight (13kg )and head and short metacarpals and phalanges with circumference (48.5 cm) were <50th centile. cone-shaped epiphyses (Fig. 2). The bone age He had a dysmorphic facies with a broad and was significantly advanced, with 7 carpal depressed nasal bridge and an upturned nose bones on each side, with a bone age of more with anteverted nostrils. He had hypoplastic than 6 years and he had very large epiphyses of maxillae, a tendency to hold the mouth open, the long bones for his age. He also had gingival hyperplasia, and dental malocclusion significantly hypertrophied first metatarsals due to anterior open bite. Eyes showed and phalanges of the great toes bilaterally bilateral heterochromia of iris and epicanthal confirming a first ray hyperplasia. The folds and hypertelorism with a normal fundus metatarsals and phalanges of the other toes Fig. 2. X- ray of the hand showing accelerated bone Fig, 1. Typical nasal hypoplasia, anteverted nostrils, age, short metacarpals and phalanges with heterochromic irides, hypertelorism cone-shaped epiphyses. INDIAN PEDIATRICS 823 VOLUME 42__AUGUST 17, 2005 CASE REPORTS were short and stubby. With these clinical this syndrome (Fig. 3). No other family and radiological features a diagnosis of members had any similar anomalies. acrodysostosis was made. The mother became pregnant a second A skull X-ray showed a very thick time, and due to her fear of having a second calvarium and increased mandibular angle child with psychomotor delay the fetus was 147.5º (129º mean value for <6 years) which closely monitored by serial 4 dimensional are some of the less common features of this Echo evaluation with comparison of fetuses syndrome. Brain stem auditory evoked with similar gestational age and sex as controls response was normal. Ultrasound study of for parameters like short fingers, hypoplastic abdomen showed normal kidneys, and MRI nose and hyperplasia of the first metatarsal. study of the brain and spine was within normal Ultrasound study has its own limitations as limits with no evidence of lumbar canal nomograms are not available for detection of stenosis. Serum calcium, phosphorous and short fingers and nasal bone hypoplasia in alkaline phosphatase levels were normal. acrodysostosis in fetuses. Fortunately the fetus did not show any of these features and the Interestingly, the mother also showed a mother gave birth to a normal male baby. similar hypertrophy of the first metatarsals and phalanges of both great toes of her feet, Discussion thereby showing the autosomal dominant Acrodysostosis is a rare syndrome inheritance pattern with variable expressivity, characterized by peripheral dysostosis (gross as she did not have any of the other features of shortening of hands and feet), mental Fig. 3. X- ray foot of proband and mother showing classical first ray hyperplasia. INDIAN PEDIATRICS 824 VOLUME 42__AUGUST 17, 2005 CASE REPORTS retardation, nasal hypoplasia (pug nose) and deficit is described in 67% of patients but our maxillary hypoplasia(2). Mental deficiency is patient had normal hearing. reported in 77% of patients. The characteristic Most of these cases occur sporadically. cranio-facial features include brachycephaly, Autosomal dominant inheritance pattern was low nasal bridge, anteverted nostrils, hyper- seen in only 14% of patients in a review of 30 telorism, epicanthal folds, tendency to keep cases of acrodysostosis(4-6). In our case the the mouth open, prognathism, dental mal- mother had only first ray hyperplasia in both occlusion, and delayed tooth eruption. feet which is an important feature of this The fingers and toes are abnormally short syndrome which suggests an AD inheritance (peripheral dysostosis), with broad and short with variable expressivity. Advanced paternal hands, with wrinkling of the skin of the age has been noted in the fathers of some dorsum of the hand. The nails on the fingers affected individuals(7). and toes are broad. Affected children exhibit The differential diagnosis includes advanced bone age and have large epiphyses pseudohypoparathyroidism (Albright’s here- for their age. Short stature and shortened hands ditary osteodystrophy) which classically and feet are caused by advanced bone age presents with short stature, short metacarpals resulting in premature epiphyseal ossification. and metatarsals and mental deficiency but they have low calcium and elevated phosphorus The metacarpals and phalanges show and alkaline phosphatase(8). Acromesomelic typical cone-shaped epiphyses, which fuse dysplasia also presents with extreme short prematurely. Cone shaped epiphyses are a rare stature, short hands and feet, and mild mental and distinctive clue to the diagnosis. retardation, but our patient did not have Acrodysostosis, pseudohypoparathyroidism mesomelia and was near normal in height. and acromesomelic dwarfism may present Lower thoracic kyphosis is an important clue with cone shaped epiphysis. Even though to the condition, and is transmitted as an these conditions share some important clinical autosomal recessive pattern. Though patients features, advanced bone age and first ray with Robinow syndrome also have short hands hyperplasia are two important findings which and short stature and anteverted nostrils, distinguish acrodysostosis from the other their typical facies, hypoplastic genitalia conditions(3). A pointer in neonates with and small penis differentiate them from suspected acrodysostosis is the extensive acrodysostosis. epiphyseal stippling, which almost always disappears by 8 months of age(3). Contributors: SSR diagnosed and managed the patient. AP did the radiological evaluation of the Vertebral defects include loss of normal patient and was also involved in the drafting of the caudal widening of the lumbar interpedicular manuscript. GT was managing the patient during his distance, lumbar canal stenosis and scoliosis. infancy and had sent the patient for