|Year : 2006 | Volume
| Issue : 1 | Page : 45-49
BJ Shilpa, L Ashok, PA Sattur
Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davanagere - 577 004, Karnataka, India
Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere - 577 004
Source of Support: None, Conflict of Interest: None
Presented here is a case of a 8 year old boy with typical clinical manifestations of Acrocallosal syndrome. The characteristic features of this syndrome are craniofacial abnormalities, distinctive digital malformation, mental retardation. The clinical and major nosologic aspects of this condition are discussed.
Keywords: Corpus callosum, Frontal bossing, High-arch palate, Post axial polydactyly
|How to cite this article:|
Shilpa B J, Ashok L, Sattur P A. Acrocallosal syndrome. J Indian Soc Pedod Prev Dent 2006;24:45-9
Acrocallosal syndrome (ACS) is a rare autosomal recessive genetic disorder with hypoplasia / agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformations and growth retardation.
ACS is also known by its synonyms: Schinzel Acrocallosal syndrome and Hallux duplication, Post axial polydactyly and absence of corpus callosum. The inheritance is autosomal recessive based on the reports of recurrences in families and parental consanguinity. The gene responsible for this disease has not yet been identified, although Pfeiffer et al suggested that the gene for ACS may be situated on chromosome 12p.
The acrocallosal syndrome (ACS) was first reported by Schinzel in a 4-year-old boy with post axial polydactyly, hallux duplication, absence of corpus callosum, macrocephaly and mental retardation in 1979. The name acrocallosal syndrome was proposed by Schinzel and Schimid in 1980. Since Schinzels original description, ACS has been described in over 37 cases till date. Presented here is a case of a 8 year old boy with features, compatible with the diagnosis of ACS.
| Case Report|| |
An eight year old male child, reported to the Department of Oral Medicine and Radiology Bapuji Dental College and Hospital, Davangere, Karnataka, with the chief complaint of over retained milk teeth and crowding of permanent upper and lower front teeth. History revealed that he is a second child of consanguinous parents. His birth was at full term normal delivery with birth weight of 2.5 kgs. On further enquiry, all his developmental milestones were delayed. His past surgical history revealed excision of supernumerary finger attached to fifth finger seven years back. There was no history of maternal illness, drug intake or exposure to radiation during antenatal period. The paternal and maternal age during his birth was 34 years and 25 years. The elder sibling was normal and there was no family history of any similar illness. Clinical examination revealed the following:
Generalized growth retardation.
Neurologic Signs: border line mental retardation, strabismus, hypotonia.
Craniofacial abnormalities: Macrocephaly with dolichocephaly [Figure - 1], frontal bossing [Figure - 2], hypertelorism [Figure - 1], down slanting palpebral fissure, posteriorly angulated malformed ears [Figure - 2], short philtrum, small nose [Figure - 1], with broad nasal bridge [Figure - 1].
Limb abnormalities: Long tapered fingers, postaxial polydactyly of hands [Figure - 3], syndactyly of second and third toes [Figure - 4], fifth finger clinodactyly [Figure - 5], hallux valgus. [Figure - 6]
Triple hair whorl [Figure - 7]
Prominent occiput [Figure - 2]
Scoliosis [Figure - 8]
Micropenis [Figure - 6]
Clinically, no cardiovascular and respiratory system abnormality was noted.
At the age of eight years patient had
Weight 13 kg.
Height 101.5 cms.
Head circumference 52 cms.
Chest circumference 62.5 cms.
IQ (Binet test) 75 - Borderline mental retardation.
Mental age 5-6 years.
Total hand length 14.5 cms
Palm length 8.25 cms
Middle finger length 6.25 cms
Foot length 20 cms
Dental findings were as
16, 55, 54, 53, 52, 51, 61, 21, 62, 63, 64, 65, 26, 36, 75, 74, 73, 72, 31, 71, 41, 81, 82, 83, 84, 85, 46
6EDC21 A1 BCDE6
High arch palate [Figure - 9]
Lower anterior teeth crowding [Figure - 10]
Angle's class I molar relation
Routine laboratory investigations were normal. Radiographic Investigations:
a) PA skull [Figure - 11]
b) Lateral Skull view [Figure - 12]
Silver beaten appearance of skull
c) Cranial Plain Computerized Tomography [Figure - 13][Figure - 14]
Corpus callosal dysgenesis
d) Hand wrist radiograph [Figure - 5]
Fifth finger clinodactyly
Estimated bone age of 5-6 years
e) Chest radiograph
The diagnosis is based on characteristic phenotype, in particular striking craniofacial and skeletal abnormalities.
| Discussion|| |
The Acrocallosal syndrome is a true multiple congenital anomaly/mental retardation autosomal recessive syndrome, whose pleiotropic effects mainly involve the central nervous system/facial midline and skeleton. Main manifestations include macrocephaly, large anterior fontanelle, prominent forehead, hypoplasia/agenesis of corpus callosum, hand (pre) postaxial polydactyly, feet pre (post) axial polydactyly, syndactyly, mental retardation, hypertelorism, strabismus, small nose, broad nasal bridge, high arch/cleft palate. The other less frequent signs such as seizures, retinal pigment anomalies, optic atrophy, nystagmus, nipple anomalies, inguinal/umbilical/ epigastric hernia and genital, visceral, cardiovascular and other cerebral anomalies. There is no reported sex predilection.
Initially it was thought to be an autosomal dominant condition but subsequent reports of consanguinity as well as affected ACS sibs born to unaffected parents, have suggested autosomal recessive inheritance. The inheritance has been suggested to be autosomal recessive, thus there is a 25% chance of the next child being effected. In India, first ACS was reported in 2003. Pfeiffer et al (1992) reported de novo inverted tandem duplication of 12pl1.2 -p13.3 in a child with ACS. ACS may represent a heterogenous group of disorders that, in some cases, may result from mutation in GL13 and represent a severe, allelic form of Greig's Cephalopolysyndactyly syndrome. The patient being reported had mental retardation, dysgenesis of corpus callosum, post axial polydactyly involving both hands with syndactyly of feet. [Table - 1] depicts the features of ACS in our case.
The differential diagnosis ACS includes Greig's Cephalopolysyndactyly syndrome, Orofacial -digital syndromes Type I and II, Meckel-Gruber syndrome, Smith-Lemli-optiz syndrome, Rubinstein-Taybi syndrome.
Management of ACS includes surgical correction of polydactyly, cleft palate, hernia, brain cyst/tumors and congenital cardiac malformations. Genetic counseling is of prime importance and antenatal diagnosis can be attempted by mutation analysis and antenatal ultrasound. The dental treatment planned for this patient was oral prophylaxis and extraction of over retained deciduous teeth along with root stumps followed by restoration of carious teeth.
| References|| |
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|8.||Elson E, Perveen R, Donnai D, Wall S, Black GC. Denovo GL13 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GL13 defects and overlap with murine models. J Med Genet 2002;39:804-6. [PUBMED] [FULLTEXT]|
|9.||Hendriks HJ, Brunner HG, Haagen TA, Hamel BC. Acrocallosal syndrome. Am J Med Genet 1990;35:443-6. [PUBMED] |
|10.||Recognizable patterns of malformation: Acrocallosal syndrome. In : Jones KL editor, Smith's Recognizable Patterns of Human Malformation, 5th edn. Philadelphia: WB Saunders Company; 1997. p. 226-7. |
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[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8], [Figure - 9], [Figure - 10], [Figure - 11], [Figure - 12], [Figure - 13], [Figure - 14]
[Table - 1]
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|[Pubmed] | [DOI]|