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[Familial form of pyknodysostosis with hematologic manifestations in a child].
Arch Pediatr. 1995 May; 2(5):456-9.AP

Abstract

BACKGROUND

Pyknodysostosis is characterized by post-natal onset of short-limbed short stature and generalized hyperostosis. It must be differentiated from osteopetrosis with precocious manifestations in which hyperostosis may crowd the marrow cavity with extramedullary hematopoiesis.

CASE REPORTS

A boy, born from consanguineous parents presented with classical features of pyknodysostosis: short-limbed stature, large skull, frontal bossing, wide anterior fontanelle and tendency to fracture. His sister had the same features at the age of 3 months; she had hepatosplenomegaly at the age of 5 months with anemia, erythroblastosis (13%), myelemia and, at 10 months, thrombocytopenia.

CONCLUSION

Hyperosostis can be complicated by development of such severe hematological manifestations as classically seen in osteopetrosis. Differential diagnosis between both entities is based upon radioclinical investigation.

Authors+Show Affiliations

Unité de réanimation polyvalente de l'enfant, CHU, Angers, France.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

7640739

Citation

Le Bouedec, S, et al. "[Familial Form of Pyknodysostosis With Hematologic Manifestations in a Child]." Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, vol. 2, no. 5, 1995, pp. 456-9.
Le Bouedec S, Pellier I, Rialland X, et al. [Familial form of pyknodysostosis with hematologic manifestations in a child]. Arch Pediatr. 1995;2(5):456-9.
Le Bouedec, S., Pellier, I., Rialland, X., & Granry, J. C. (1995). [Familial form of pyknodysostosis with hematologic manifestations in a child]. Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2(5), 456-9.
Le Bouedec S, et al. [Familial Form of Pyknodysostosis With Hematologic Manifestations in a Child]. Arch Pediatr. 1995;2(5):456-9. PubMed PMID: 7640739.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Familial form of pyknodysostosis with hematologic manifestations in a child]. AU - Le Bouedec,S, AU - Pellier,I, AU - Rialland,X, AU - Granry,J C, PY - 1995/5/1/pubmed PY - 2000/5/5/medline PY - 1995/5/1/entrez SP - 456 EP - 9 JF - Archives de pediatrie : organe officiel de la Societe francaise de pediatrie JO - Arch Pediatr VL - 2 IS - 5 N2 - BACKGROUND: Pyknodysostosis is characterized by post-natal onset of short-limbed short stature and generalized hyperostosis. It must be differentiated from osteopetrosis with precocious manifestations in which hyperostosis may crowd the marrow cavity with extramedullary hematopoiesis. CASE REPORTS: A boy, born from consanguineous parents presented with classical features of pyknodysostosis: short-limbed stature, large skull, frontal bossing, wide anterior fontanelle and tendency to fracture. His sister had the same features at the age of 3 months; she had hepatosplenomegaly at the age of 5 months with anemia, erythroblastosis (13%), myelemia and, at 10 months, thrombocytopenia. CONCLUSION: Hyperosostis can be complicated by development of such severe hematological manifestations as classically seen in osteopetrosis. Differential diagnosis between both entities is based upon radioclinical investigation. SN - 0929-693X UR - https://www.unboundmedicine.com/medline/citation/7640739/[Familial_form_of_pyknodysostosis_with_hematologic_manifestations_in_a_child]_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0929693X96811821 DB - PRIME DP - Unbound Medicine ER -