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A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay.
Clin Dysmorphol. 1994 Jan; 3(1):75-81.CD

Abstract

We present two female children with a distinctive pattern of malformation, including persistent thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. We feel that these findings constitute a heretofore undescribed syndrome. Patient 1 presented during the newborn period with thrombocytopenia, Robin cleft, distinctive facies and agencies of the corpus callosum. Her thrombocytopenia has been persistent. Bone marrow aspirate showed adequate megakaryocytes. On follow-up she has mental retardation, microcephaly, growth delay and enamel hypoplasia. Patient 2 was also noted during the newborn period to have the Robin sequence, agenesis of the corpus callosum, a similar face to case 1 and persistent thrombocytopenia. Bone marrow aspirate showed decreased megakaryocytes. She also had delayed development, short stature, microcephaly and enamel hypoplasia. The combination of the Robin cleft, congenital onset of persistent thrombocytopenia and enamel hypoplasia appears particularly unique in combination. The aetiopathogenesis of this condition is unknown.

Authors+Show Affiliations

University of Utah, Department of Pediatrics, Salt Lake City 84132.No affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article

Language

eng

PubMed ID

7515754

Citation

Braddock, S R., and J C. Carey. "A New Syndrome: Congenital Thrombocytopenia, Robin Sequence, Agenesis of the Corpus Callosum, Distinctive Facies and Developmental Delay." Clinical Dysmorphology, vol. 3, no. 1, 1994, pp. 75-81.
Braddock SR, Carey JC. A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. Clin Dysmorphol. 1994;3(1):75-81.
Braddock, S. R., & Carey, J. C. (1994). A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. Clinical Dysmorphology, 3(1), 75-81.
Braddock SR, Carey JC. A New Syndrome: Congenital Thrombocytopenia, Robin Sequence, Agenesis of the Corpus Callosum, Distinctive Facies and Developmental Delay. Clin Dysmorphol. 1994;3(1):75-81. PubMed PMID: 7515754.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. AU - Braddock,S R, AU - Carey,J C, PY - 1994/1/1/pubmed PY - 1994/1/1/medline PY - 1994/1/1/entrez SP - 75 EP - 81 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 3 IS - 1 N2 - We present two female children with a distinctive pattern of malformation, including persistent thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. We feel that these findings constitute a heretofore undescribed syndrome. Patient 1 presented during the newborn period with thrombocytopenia, Robin cleft, distinctive facies and agencies of the corpus callosum. Her thrombocytopenia has been persistent. Bone marrow aspirate showed adequate megakaryocytes. On follow-up she has mental retardation, microcephaly, growth delay and enamel hypoplasia. Patient 2 was also noted during the newborn period to have the Robin sequence, agenesis of the corpus callosum, a similar face to case 1 and persistent thrombocytopenia. Bone marrow aspirate showed decreased megakaryocytes. She also had delayed development, short stature, microcephaly and enamel hypoplasia. The combination of the Robin cleft, congenital onset of persistent thrombocytopenia and enamel hypoplasia appears particularly unique in combination. The aetiopathogenesis of this condition is unknown. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/7515754/A_new_syndrome:_congenital_thrombocytopenia_Robin_sequence_agenesis_of_the_corpus_callosum_distinctive_facies_and_developmental_delay_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=7515754.ui DB - PRIME DP - Unbound Medicine ER -