Pyknodysostosis: A report of two siblings with unusual manifestations

Annals of Tropical Paediatrics

Volumn 19, Issue 3, 1999, Pages 301-305

  Agarwal, Indira ^a   Kirubakaran, Chellam ^a   Sridhar, Gibikote ^a  

^a CHRISTIAN MEDICAL COLLEGE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ACHONDROPLASIA; ALBERS SCHOENBERG DISEASE; ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; EXTRAMEDULLARY HEMATOPOIESIS; FEMALE; HEMOLYTIC ANEMIA; HUMAN; INDIA; MALE; MEDICAL LITERATURE; OBSTRUCTIVE AIRWAY DISEASE; PYKNODYSOSTOSIS; SIBLING;

CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; DYSOSTOSES; FEMALE; HEMATOPOIESIS, EXTRAMEDULLARY; HUMANS; MALE; SLEEP APNEA, OBSTRUCTIVE;

EID: 0032888766     PISSN: 02724936     EISSN: None     Source Type: Journal    
DOI: 10.1080/02724939992419     Document Type: Article

References (13)

1. Montanari U. Achondroplasia e disostosi cleidocranica-digitale. Chir Organi Movimento 1923; 7:379-91.
2. Sedano HD, Gorlin RJ, Anderson VE. Pycnodysostosis. Clinical and genetic considerations. Am J Dis Child 1968; 116:70-7.
3. Kumar R, Misra PK, Singhal R. An unusual case of pycnodystosis. Arch Dis Child 1998; 5:558-9.
4. Muganagowda, Banapurmath CR, Kesaree N, Hegde SR, Umesh L. Pycnodysostis. Indian Pediatr 1993; 6:798-800.
5. Elmore SM. Pyknodysostosis - a review. J Bone Joint Surg 1967; 49:153-61.
6. Cetinkaya F, Aydin M, Selcuk M. Pyknodysostosis with anaemia. Indian J Pediatr 1993; 5:696-8.
7. Benz G, Schmid-Ruter E. Pyknodysostosis with heterozygous beta-thalassemia. Pediatr Radiol 1977; 5:164-71.
8. Le Bouedec S, Pellier I, Rialland X, Granry JC. Familial form of pyknodysostosis with hematologic manifestations in a child. Arch Pediatr 1995; 5:456-9.
9. Santhanakrishnan BR, Paneerselvam S, Ramesh S, Panchatcharam M. Pycnodysostosis with visceral manifestation and rickets. Clin Pediatr (Phila) 1986; 25:416-18.
10. de Augustin JC, Jover P, Leon M, Oliver A, Izal E, Utrilla JG. Extreme cause of sleep apnoea. Cir Pediatr (Barcelona) 1992; 2:105-8.
11. Kenneth Lyons Jones. Smiths Recognizable Patterns of Human Malformation, 4th edn. Philadelphia: WB Saunders, 1982; 360-1.
12. Shuler SE. Pyknodysostosis. Arch Dis Child 1963; 38:620-5.
13. Gelb BD, Moissoglu K, Zhang J, Martignetti JA, Bromme D, Desnik RJ. Cathepsin K: isolation and characterisation of the murine cDNA and genomic sequence, the homologue of the human pyknodysostosis gene. Biochem Mol Med 1996; 59:200-6.