Table 1 Synopsis of clinical features in the three individuals with EVEN-PLUS syndrome and HSPA9 mutations.
Pat. 1 | Pat. 2 | Pat. 3 | |
|---|---|---|---|
birth measurements | length 38 cm, weight 2.2 kg (at week 39); both values markedly below the normal range | length 39 cm, weight 2.8 kg (at week 38); length markedly below the normal range | length 39 cm, weight 2750 g (at week 38); length markedly below the normal range |
nose | hypoplastic nose with vertical groove on tip (bifid tip) and triangular nares | hypoplastic nose with vertical groove on tip (bifid tip) and triangular nares | hypoplastic nose with vertical groove on tip (bifid tip) and triangular nares |
ears | absent external ears (anotia), open ear duct | severe microtia with absent upper helix | absent external ears with open ear duct; possible hypoacusis |
eyes | synophrys; no cataract | synophrys; no cataract | synophrys; no cataract |
teeth | single upper central incisor, absence of some lateral incisors | ||
skin | atopic dermatitis, sparse hair | two lateral hair whorls and area of aplasia cutis on the skull vertex | area of aplasia cutis on the skull vertex |
heart | ASD (spontaneously closed at age 20 mos) | ASD (ostium secundum) | patent foramen ovale and aneurysmatic septum |
gastrointestinal | anal atresia | normal abdominal ultrasonography | anal atresia |
kidney/urogenital | No abnormalities on ultrasound | 1 UTI at 1 year but normal renal ultrasonography | vesicoureteral reflux, hypoplastic right kidney |
brain | normal MRI at age 5 mos | normal cerebral ultrasonography | agenesis of the corpus callosum with separated frontal horns |
psychomotor development | Borderline-normal | Normal evaluation at kindergarten level, including language | Moderate developmental delay |
HSPA9 mutations | p.Y128C/p.V296* | pR126W/p.R126W | pR126W/p.R126W |
