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Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course.
Eur J Pediatr. 1996 Sep; 155(9):796-9.EJ

Abstract

We report on a 13-month old boy with microcephalic osteodysplastic primordial dwarfism (MOPD), whose radiographic signs correspond with type II of this entity. Some of his clinical signs, such as the anomalies of the external genitalia and the urinary tract, are common to this subgroup of MOPD, but he also shows unusual clinical signs including bilateral knee dislocation and hypoplasia of the anterior corpus callosum. His clinical course was unusual with several episodes of breathing difficulties and increased intracranial pressure secondary to craniosynostosis at the age of 16 months. After front-orbital advancement for the treatment of brachycephaly, his psychomotor development improved remarkably.

CONCLUSION

MOPD type II may have a wider range of expression than previously delineated.

Authors+Show Affiliations

Institute of Human Genetics and Anthropology, Heidelberg, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8874115

Citation

Spranger, S, et al. "Case Report. Microcephalic Osteodysplastic Primordial Dwarfism Type II: a Child With Unusual Symptoms and Clinical Course." European Journal of Pediatrics, vol. 155, no. 9, 1996, pp. 796-9.
Spranger S, Tariverdian G, Albert FK, et al. Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course. Eur J Pediatr. 1996;155(9):796-9.
Spranger, S., Tariverdian, G., Albert, F. K., Sontheimer, D., Zöller, J., Weber, M., & Tröger, J. (1996). Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course. European Journal of Pediatrics, 155(9), 796-9.
Spranger S, et al. Case Report. Microcephalic Osteodysplastic Primordial Dwarfism Type II: a Child With Unusual Symptoms and Clinical Course. Eur J Pediatr. 1996;155(9):796-9. PubMed PMID: 8874115.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course. AU - Spranger,S, AU - Tariverdian,G, AU - Albert,F K, AU - Sontheimer,D, AU - Zöller,J, AU - Weber,M, AU - Tröger,J, PY - 1996/9/1/pubmed PY - 1996/9/1/medline PY - 1996/9/1/entrez SP - 796 EP - 9 JF - European journal of pediatrics JO - Eur. J. Pediatr. VL - 155 IS - 9 N2 - UNLABELLED: We report on a 13-month old boy with microcephalic osteodysplastic primordial dwarfism (MOPD), whose radiographic signs correspond with type II of this entity. Some of his clinical signs, such as the anomalies of the external genitalia and the urinary tract, are common to this subgroup of MOPD, but he also shows unusual clinical signs including bilateral knee dislocation and hypoplasia of the anterior corpus callosum. His clinical course was unusual with several episodes of breathing difficulties and increased intracranial pressure secondary to craniosynostosis at the age of 16 months. After front-orbital advancement for the treatment of brachycephaly, his psychomotor development improved remarkably. CONCLUSION: MOPD type II may have a wider range of expression than previously delineated. SN - 0340-6199 UR - https://www.unboundmedicine.com/medline/citation/8874115/Case_report__Microcephalic_osteodysplastic_primordial_dwarfism_type_II:_a_child_with_unusual_symptoms_and_clinical_course_ L2 - http://www.diseaseinfosearch.org/result/3882 DB - PRIME DP - Unbound Medicine ER -