Table 1 Clinical description and comparison of affected individuals carrying a homozygous mutation in ICK
From: A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
Clinical features | Present fetus | Affected individuals combined/updated from Lahiry et al. [1] |
|---|---|---|
Pt I | IV-1, 2, 3, 4, 7, 8, new | |
Age at delivery (weeks) | 33 | Range 24–34 |
Karyotype | 46, XY | 46 (6/6), XY (4/6), XX (2/6) |
Height (centile) | 41 cm (10–25th) | 3rd–10th (3/5), 90th–97th (2/5) |
Weight (centile) | 2450 g (90–97th) | 90th–98th (5/7), 10th–25th (2/7) |
Head circumference (centile) | 34 cm (>97th) | 90–>98th 4/6), 3rd–20th (2/6) |
Autopsy | − | + (3/6) |
Oral | ||
Cleft palate | Cleft soft palate | Midline (5/6), notch in alveolar (1/6) |
Cleft lip | Midline notching | Midline (5/7), bilateral (2/7) |
Presence of premaxilla | + | + (2/6) |
Prominent upper lip region | − | + (2/6) |
Hypoplastic/absent epiglottis | Unknown | + (2/3) |
Hypoplastic/absent larynx | Unknown | + (2/3) |
Craniofacial | ||
Dolichocephaly | − | + (3/6) |
Midface hypoplasia | + | + (6/6) |
Microphthalmia | + | + (4/6), cystic (2/6) |
Retinal dysplasia | Unknown | + (1/3) |
Deep set eyes | + | + (5/5) |
Fused eyelids | − | + (1/6) |
Hypotelorism | − | + (1/1) |
Flat and wide nasal bridge | + | + (6/6) |
Dysplastic and low-set ears | + | + (5/5) |
Micrognathia | + | + (6/6) |
Excess skin below chin | − | + (4/6) |
Single nostril | − | + (1/1) |
Natal teeth | + | + (1/6) |
Limbs-thorax | ||
Micromelia | +, severe | + (7/7) |
Polydactyly (postaxial) | Upper limbs, heptadactyly | + (6/6) |
Polydactyly (preaxial) | Lower limbs, heptadactyly | − |
Brachydactyly | +, Severe | + (6/6) |
Syndactyly | 4 limbs, total syndactyly | + (7/7) |
Hitch-hikers’ thumbs | − | + (1/6) |
Palmar creases abnormalities | Irregular, vertical creases | + (3/3) |
Ulnar deviation of hands | − | + (6/6) |
Bowing of forearms | + | + (6/6) |
Bowing of lower legs | − | + (2/6) |
Abducted hips | + | + (6/6) |
Sandal gap | − | + (6/6) |
Talipes equinovarus | + | – |
Chest width | Narrow | Broad (1/6), narrow (1/6) |
Prominent xyphoid | − | + (1/6) |
Radiography | ||
Abnormal long bones (radius, ulna, tibia, fibula) | Very short with bowed radii and more severe involvement of the lower limb | Short diaphysis (1/1) |
Short and incurved ulnae | + | + (1/1) |
Short and ovoid tibiae | Very short, with very short fibula | + (1/1) |
Abnormal humerus | Very short | Short diaphysis (1/1) |
Abnormal femur | Very short, torpedo-like | Short and ovoid (1/1) |
Spondylar involvement | +, Mildly defective ossification | Unknown |
Premature epiphyseal ossification | +, Knees | Unknown |
Abnormal ilium | Small ilia with normal contour | + (1/1) |
Abnormal/hypoplastic acetabular roof | − | + (1/1) |
Central nervous system | ||
Evidence of holoprosencephaly | − | + (4/4) |
Corpus callosum | + | + (3/3) |
Absence of septum pellucidum | + | + (2/2) |
Hydrocephalus (ventriculomegaly) | + | + (2/2) |
Dysmorphic cerebral aqueduct | Unknown | + (2/2) |
Olfactory bulbs | Unknown | + (2/2) |
Cerebral cortex malformation | Unknown | + (3/3) |
Brainstem malformation | Unknown | + (3/3) |
Cerebellar abnormalities | − | + (2/2) |
Hippocampus agenesis | Unknown | + (2/2) |
Leptomeningeal glioneuronal heterotopia | Unknown | + (1/1) |
Spinal cord malformation | Unknown | + (1/2) |
Endocrine system | ||
Pituitary gland | Unknown | + Absent (2/2) |
Adrenal glands | Unknown | + Absent (1/3), hypoplastic (2/3) |
Other | ||
Polyhydramnios | − | + (1/6) |
Fetal hydrops | + | − |
Pulmonary hypoplasia | Unknown | + (1/1) |
Congenital heart defect | +, VSD | − |
Gastrointestinal anomalies | Unknown | + (2/3) |
External genitalia abnormalities | Sex reversal with hypoplastic labial folds | + (4/7) |
Cryptorchidism | n/a | + (1/6)c |
(Hyper)echogenic kidneys | + | + (3/6) |
Large kidneys | + | + (1/6)d |
Squamous metaplasia of bladder | Unknown | + (1/3) |