Table II.
Chromosomal changes in the literature and this cohort
| Chromosomal Change | Features consistent with CSS | Reference |
|---|---|---|
| Partial Trisomy 9 | Hypoplastic 5th digit nails Hirsutism Coarse facial features |
Kushnick and Adessa (1976) |
| t(1;7)(q21.3;q34), balanced | Coarse facial features GI disturbances Hypoplastic fifth toenails Absent fifth digit fingernails |
Mcpherson et al (1997) |
| t(7;22)(q32;q11.2), balanced | Feeding difficulties Microcephaly Hirsutism Hypoplastic fifth digits Coarse facial features |
McGhee et al (2000) |
| t(12;14)(q24;q32) | Coarse facial features Broad nasal bridge Hypoplastic nails of the hands Recurrent infections Developmental and cognitive delay Sparse scalp hair |
Patel et al (1987) |
| Dup 3p26.3 (758 kb) (de novo in proband only) Shared homozygosity on 12q24.11 (591kb; proband, brother, cousin) |
Sparse scalp hair Developmental/cognitive delay IUGR Hypoplastic 5th digits Feeding difficulties |
Family 1, Current report |
| Del 20p12.3 (2.3 Mb), inherited Dup 2p22.2-pter (39 Mb, mosaic, de novo in proband) |
Hypoplastic 5th digits Developmental delay |
Family 2, Current report |
| Del 6q25.3 (3.0 Mb), de novo Homozygosity 2q37.2ter (7.0 Mb) |
Hypoplastic 5th digits Developmental delay Hypotonia Wide mouth Hypertrichosis Ptosis Thick eyebrows Hearing loss Congenital heart disease |
Proband 7, Current report |
| Del 2q24.3-2q32.2 (26Mb, presumed de novo) |
Sparse scalp hair Hypoplastic fifth digits IUGR FTT Feeding difficulties Hearing loss Long eyelashes |
Proband 8, Current report |
IUGR – intra-uterine growth retardation; FTT – failure to thrive