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Table 1 Clinical features

From: Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies

Case No. Gender Age of referral (years) Age of clinical BMF onset (years) Congenital malformations Growth retardation Family history
1 M 12 2 S, C, M Yes Negative
2 M 7 2 S, C, G Yes Negative
3 M 10 5 S, G Yes One sibling manifested as polydactyly and died from anemia
4 M 11 5 C, G, M, Yes One sibling manifested as polydactyly and died from anemia
IVF and paternal grandmother died from pancreatic cancer
5 F 11 10 C, H Yes IVF and paternal grandmother died from pancreatic cancer
6 M 7 5 S, M No Negative
7 M 17 10 S, M No Negative
8 M 7 7 S, C, M, H No Negative
9 M 5 4 S, M No Negative
10 M 13 13 E Yes Negative
11 M 9 6 S Yes Negative
12 F 7 7 M Yes Negative
13 M 7 1 S, M Yes Negative
14 M 5 2 S No Negative
15 M 14 5 C, G Yes Two family members died from anemia
16a M 6 4 S, C, M Yes 2nd degree consanguinity
17 M 4 3 None No Negative
18 F 9 4 S, M No Negative
19 F 7 4 S, G, N Yes Negative
20 F 6 3 S, C, G Yes Negative
21 F 6 4 S, M, H, E, G Yes 2nd degree consanguinity
  1. Skin and annex abnormalities include skin pigmentation, café au lait spots, excess hair; craniofacial anomalies include microcephalus, ptosis, hypertelorism, hypotelorism, flat nose bridge; malformations in musculoskeletal system include polydactyly, deformity of thumbs, absence of thumbs, hypoplasia of thenar eminence, and scoliosis; genitourinary system malformations include kidney malformation, hydronephrosis, indirect inguinal hernia, cryptorchidism, ovary absence, and uterine malformation/absence; cardiovascular system defects include patent ductus arteriosus and ventricular septal defect; nervous system abnormalities include encephalatrophy and moyamoya disease; endocrine system defects include hypothyroidism, primary adrenocortical insufficiency, and obesity
  2. F female, M male, S skin and annex, C craniofacial anomalies, M musculoskeletal system, G genitourinary system, H cardiovascular system, E endocrine system, N nervous system, IVF in vitro fertilized
  3. aCase 16 is of Chinese Uyghur ancestry