Table 1 Clinical findings and score calculation of the patient.
Clinical findings of the patient | |
|---|---|
Sex/Age | F/43 |
Cardinal features (2 points each if present) | |
Synophrys (HP:0000664) and/or thick eyebrows (HP:0000574) | + |
Short nose (HP:0003196), concave nasal ridge (HP:0011120) and/or upturned nasal tip (HP:0000463) | + |
Long (HP:0000343) and/or smooth philtrum (HP:0000319) | + |
Thin upper lip vermilion (HP:0000219) and/or downturned corners of mouth (HP:0002714) | + |
Hand oligodactyly (HP:0001180) and/or adactyly (HP:0009776) | − |
Congenital diaphragmatic hernia (HP:0000776) | − |
Suggestive features (1 point each if present) | |
Global developmental delay (HP:0001263) and/or intellectual disability (HP:0001249) | + |
Prenatal growth retardation (< 2 sD) (HP:0001511) | n.d. |
Postnatal growth retardation (< 2 sD) (HP:0008897) | − |
Microcephaly (prenatally and/or postnatally) (HP:0000252) | − |
Small hands (HP:0200055) and/or feet (HP:0001773) | + |
Short fifth finger (HP:0009237) | − |
Hirsutism (HP:0001007) | + |
Clinical score | 11 (Classic) |
Phenotype | Moderate |
