Acromesomelic dwarfism: A New Variation

Journal of Pediatric Orthopaedics Part B

Volumn 6, Issue 1, 1997, Pages 27-32

  Ferraz, F G ^a,c   Sousa, J P ^a   Alves, T ^a   Dias, I ^a   Ferraz, E ^a   Marques, M ^a   Santos, L ^a   Maroteaux, P ^b  

^a Pediatrics Hospital of D Estef nia   (Portugal)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c Department of Pediatrics ^*  (Portugal)

Author keywords

Acromesomelic dwarfism; Autosomal dominant inheritance; Bone dysplasia; Dwarfism; Short limbs

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; FEMALE; HUMAN; LONG BONE; MALE; MICROMELIA; NEWBORN; PEDIGREE; PRIORITY JOURNAL; SHORT LIMBED DWARFISM; SHORT STATURE;

ADULT; DWARFISM; FEMALE; FINGERS; FOREARM; HUMANS; PEDIGREE;

EID: 0030763544     PISSN: 1060152X     EISSN: 14735865     Source Type: Journal    
DOI: 10.1097/01202412-199701000-00007     Document Type: Article

References (30)

1. Banapurmath CR, Patil M, Guruprasa G, et al. Acromesomelic dysplasia of the Maroteaux type. Indian J Pediatr 1990;57: 803-5.
2. Beals RK, Lovrien EW. Dyschodrosteosis and Madelung's deformity. Report of three kindreds and review of the literature. Clin Orthop Rel Res 1976;116:24-8.
3. Beighton P. Autosomal recessive inheritance in the meso-melic dwarfism of Campailla and Martinelli. Clin Genet 1974;5:363-7.
4. Borrelli P, Fasanelli S, Marini R. Acromesomelic dwarfism in a child with an interesting family history. Pediatr Radiol 1983;13:165-8.
5. Campailla E, Martinelli B. Deficit structurale con micromeso-melia. Presentazion di due casi familiari. Minerva Ortop 1971;22:180-4.
6. Cantu JM, Marzano C, Pagan P, et al. A distinct skeletal displasia in an infant from consanguineous parents. Birth Defects: Original Article Series 1977;13:139-47.
7. Clarke WN, Munro S, Brownstein S, et al. Ocular findings in acromesomelic dysplasia. Am J Ophthalmol 1994;118:797-804.
8. Felman AH, Fla G, Kirkpatrick JA. Dyschondrosteose. Meso-melic dwarfism of Lwei and Weill. Am J Dis Child 1970; 120:329-31.
9. Goodman RM, Weinberg U, Hertz M, et al. Peripheral dysostosis; an autosomal recessive form. Birth Defects: Original Article Series 1974;10:137-46.
10. Hall CM, Stoker DJ, Robinson DC. Acromesomelic dwarfism. Br J Radiol 1980;53:999-1003.
11. Hall JG. Peripheral dysostosis. BD: OAS 1969;5:371-2.
12. Hobaek A. Problems of hereditary chondrodysplasias. Oslo: Oslo University Press, 1961:116-9.
13. Hunter AGW, Thompson MW. Acromesomelic dwarfism: description of a patient and comparison with previously reported cases. Hum Genet 1976;34:107-13.
14. Langer LO, Beals RK, Solomon IL, et al. Acromesomelic dwarfism: manifestations in childhood. Am J Med Genet 1977;1:87-100.
15. Langer LO, Cervenka J, Camargo M. A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. Hum Genet 1989;81:323-8.
16. Langer LO, Garrett RT. Acromesomelic dysplasia. Radiology 1980;137:349-55.
17. Lannois M. Deux cas de nanisme achodroplasique chez le frère et la soeur. Lyon Med 1902;98:893-900.
18. Maroteaux P. Acromesomelic dwarfism. Intrinsic diseases of bones. Progr Pediat Radiol 1973;4:563-5.
19. Maroteaux P, Lamy M. Les formes pseudo-achondroplasiques des dysplasies spondylo-épiphysaires. Presse Med 1959;67: 383-6.
20. Maroteaux P, Martinelli B, Campailla E. Le nanisme acro-mesomélique. Presse Med 1971;79:1839-42.
21. Moral RF, Jimenez JMS, Gonzalez JIR, et al. Acromesomelic dysplasia: radiologic, clinical, and pathological study. Am J Med Genet 1989;33:415-9.
22. Ohba K, Ohdo S, Sonoda T et al. Acromesomelic dysplasia in a father and son: autosomal dominant inheritance. Acta Paediatr Jpn 1989;31:595-9.
23. Osebold WR, Remondini DJ, Lester EL, et al. An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei. Am J Med Genet 1985;22:791-809.
24. Pallister PD. A 59-year-old multiparus woman with acromesomelic dwarfism. Am J Med Genet 1978;1:343-6.
25. Plauchu H, Maisonneuve D, Floret D. Le nanisme acro-coxo-mésomélique: variété nouvelle de nanisme récessif autoso-mique. Ann Genet 1984;27:83-7.
26. Raes M, Vanderschueren-Lodeweickx M, Haspeslagh M, et al. A boy with acromesomelic dysplasia. Growth course and growth hormone release. Helv Paediat Acta 1985;40:415-20.
27. Sanz MI, Bahi RM, Peradeiordi GP, et al. Acromesomelic dysplasia. Report of a case. Ann Esp Pediatr 1990;32:167-70.
28. Spranger J, Gilbert EF, Flatz SH, et al. Acrofacial dysplasia resembling geleophysic dysplasia. Am J Med Genet 1984; 19:501-6.
29. Stichelbout P, Pratz R, Lemaitre G, et al. La dysplasie acro-mésomélique. A propos d'une nouvelle observation. Arch Fr Pediatr 1984;41:487-9.
30. Treub H. Un cas d'achondroplasie. Bull Soc Obstet 1904; 7:58-66.