Biomaterial Database

Diamond-Blackfan anemia associated with Treacher-Collins syndrome. 1993

R Hasan, and S Inoue

Department of Pediatrics, Hurley Medical Center, Flint, Michigan.

We describe a 2-year-old girl with a rare combination of congenital red cell aplasia or Diamond-Blackfan anemia (DBA) and Treacher-Collins syndrome (TCS). The anemia is only marginally responsive to high-dose corticosteroid, and the child is transfusion dependent. There is no one in the family affected with either DBA or TCS. A hypothesis is advanced that the simultaneous occurrence of the dysmorphism and erythroid agenesis in this case may have been the consequences of an insult to the fetus at the critical stage of development of maxillomandibular structure and the stage of primitive erythroid cell migration from the yolk sac to the fetal liver and bone marrow.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008342	Mandibulofacial Dysostosis	A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)	MFD1 Mandibulofacial Dysostosis,Treacher Collins Syndrome,Franceschetti-Zwahlen-Klein Syndrome,Mandibulofacial Dysostosis (MFD1),Treacher Collins-Franceschetti Syndrome,Dysostoses, MFD1 Mandibulofacial,Dysostoses, Mandibulofacial,Dysostoses, Mandibulofacial (MFD1),Dysostosis, MFD1 Mandibulofacial,Dysostosis, Mandibulofacial,Dysostosis, Mandibulofacial (MFD1),Franceschetti Zwahlen Klein Syndrome,Franceschetti-Zwahlen-Klein Syndromes,MFD1 Mandibulofacial Dysostoses,Mandibulofacial Dysostoses,Mandibulofacial Dysostoses (MFD1),Mandibulofacial Dysostoses, MFD1,Mandibulofacial Dysostosis, MFD1,Syndrome, Franceschetti-Zwahlen-Klein,Syndrome, Treacher Collins,Syndrome, Treacher Collins-Franceschetti,Syndromes, Franceschetti-Zwahlen-Klein,Syndromes, Treacher Collins-Franceschetti,Treacher Collins Franceschetti Syndrome,Treacher Collins-Franceschetti Syndromes
D001803	Blood Transfusion	The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)	Blood Transfusions,Transfusion, Blood,Transfusions, Blood
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003131	Combined Modality Therapy	The treatment of a disease or condition by several different means simultaneously or sequentially. Chemoimmunotherapy, RADIOIMMUNOTHERAPY, chemoradiotherapy, cryochemotherapy, and SALVAGE THERAPY are seen most frequently, but their combinations with each other and surgery are also used.	Multimodal Treatment,Therapy, Combined Modality,Combined Modality Therapies,Modality Therapies, Combined,Modality Therapy, Combined,Multimodal Treatments,Therapies, Combined Modality,Treatment, Multimodal,Treatments, Multimodal
D005199	Fanconi Anemia	Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id	Anemia, Fanconi,Fanconi Hypoplastic Anemia,Fanconi Pancytopenia,Fanconi Panmyelopathy,Fanconi's Anemia,Anemia, Fanconi's,Anemias, Fanconi,Fanconi Anemias
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000305	Adrenal Cortex Hormones	HORMONES produced by the ADRENAL CORTEX, including both steroid and peptide hormones. The major hormones produced are HYDROCORTISONE and ALDOSTERONE.	Adrenal Cortex Hormone,Corticoid,Corticoids,Corticosteroid,Corticosteroids,Cortex Hormone, Adrenal,Hormone, Adrenal Cortex,Hormones, Adrenal Cortex