Individual 1 CdLS24 | Individual 2 CdLS62 | ||
---|---|---|---|
Age | 6 years | 3 months | |
Gender | Male | Female | |
System | Specific feature | ||
Facial dysmorphy | Synophrys | + | + |
Long eyelashes | + | + | |
Short nose | + | + | |
Anteverted nostrils | + | + | |
Long philtrum | + | + | |
Broad or depressed nasal bridge | + | + | |
Thin lips with downturned corners | + | + | |
Cleft palate | + | + | |
Low set ears | + | + | |
Growth | Birth weight (pregnancy week) | 2100 g (35 hbd) | 1640 g (39 hbd) |
Birth length | 50 cm | 44 cm | |
Birth head circumference | 29 cm | 27,5 cm | |
Postnatal microsomy | + | + | |
Development | Developmental delays or intellectual disability | + | Ne |
Learning disability | + | Ne | |
Behavior | Attention deficit disorder | + | Ne |
Hyperactivity | + | Ne | |
Self-injurious behavior | + | Ne | |
Autistic-like features | – | Ne | |
Musculoskeletal | Absent arms or forearms | – | Right hand ectrodactyly |
5th finger clinodactyly | + | + | |
Abnormal palmar crease | + | + | |
Short 1st knuckle/proximally placed thumb | + | + | |
Cardiac | Type of malformation | Ventricular septal defect | Tetralogy of Fallot |
Gastrointestinal | Poor feeding | + | + |
Gastroesophageal reflux | + | + | |
Skin | Hirsutism | + | + |
Cutis marmorata | + | + | |
Neurologic | Seizures | – | – |
Hypertony | + | + | |
Deafness or hearing loss | + | + | |
Central nervous system malformation | – | Dandy Walker malformation | |
Uro genital | Cryptorchidism | + | – |