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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.GenderAge of referral (years)Age of clinical BMF onset (years)Congenital malformationsGrowth retardationFamily history
1M122S, C, MYesNegative
2M72S, C, GYesNegative
3M105S, GYesOne sibling manifested as polydactyly and died from anemia
4M115C, G, M,YesOne sibling manifested as polydactyly and died from anemia
IVF and paternal grandmother died from pancreatic cancer
5F1110C, HYesIVF and paternal grandmother died from pancreatic cancer
Negative
6M75S, MNoNegative
7M1710S, MNoNegative
8M77S, C, M, HNoNegative
9M54S, MNoNegative
10M1313EYesNegative
11M96SYesNegative
12F77MYesNegative
13M71S, MYesNegative
14M52SNoNegative
15M145C, GYesTwo family members died from anemia
16aM64S, C, MYes2nd degree consanguinity
17M43NoneNoNegative
18F94S, MNoNegative
19F74S, G, NYesNegative
20F63S, C, GYesNegative
21F64S, M, H, E, GYes2nd 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