Table 3.
Sub-GCPS patients without mutations
| Individual | Deletion Analysis |
Findings and Symptoms | Additional Findings | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Mesoaxial Polydactyly |
Postaxial Polydactyly |
Preaxial Polydactyly |
Cutaneous Syndactyly |
Macrocephaly | Wide spaced eyes |
MRI Findings | |||
| G9 | Array | HB | FL | HB | microcephaly | + | Normal | Craniosynostosis, hernia, hypospadias, SZ, DD | |
| G10 | HB, FB | + | Hypoplasia of the CC, frontal polymicrogyria, cerebellar grey matter heterotopia | Umbilical hernia, transverse vaginal membrane, DD | |||||
| G11 | FR | HB | + | + | Dental cysts | ||||
| G12 | QPCR | Oligodactyly HR | HL, FR | HB, 2,3 toe | + | + | Enlarged ventricles | Coarse face, ears low set, with increased posterior angulation, hypodontia, GH deficient, DD | |
| G13 | QPCR | HB | HB3 | + | DD | ||||
| G14 | QPCR | HB, FB | + | Normal | Short distal phalanges | ||||
| G15 | QPCR | HL, FB | FL | + | + | Mild colpocephaly | Skull asymmetry, high palate, dental crowding, long neck, pectus excavatum, prominent fetal pads, SZ, mild DD | ||
| G16 | FISH | HB, FB | + | Prominent ventricles | Broad forehead, hydronephrosis, inguinal hernias, DD | ||||
| G17 | Array | HB | HB | microcephaly | + | Agenesis of CC | Frontal bossing, infantile spasms, extra rib, DD, hearing loss, constipation, contractures | ||
| G18 | Array | HB | HB3 | Broad hands with unusual creases | + | + | Hypoplasia of the CC | Prominent forehead, depressed nasal bridge, down slanted palpebral fissures, distinctive ears, mild 6th cranial nerve palsy, tracheomalacia with one narrow bronchus, shawl scrotum, elbow dimples, low tone | |
| G19 | QPCR | HL | 2,3 toe | Hypoplasia of the CC | Bilateral club feet, VSD/ASD, iguinal hernia | ||||
| G20 | Array | FB | Agenesis of CC, cerebellar and brain stem hypoplasia, schizencephaly | High palate, 5th finger clinodactyly, left tibial bowing, deceased at 8 days | |||||
| G21 | QPCR | FB | |||||||
| G22 | Array | HB, FL | Short distal phalanges, absent finger nails, short humeri | ||||||
| G23 | Array | HR | Increased CSF space on ultrasound | Hemivertebrae, 10 ribs bilaterally, mild plagiocephaly, depressed nasal bridge, frontal | |||||
| G24 | Array | Bifid second toe FL | FB3 | Normal | Complex cardiac anatomy, bell shaped rib cage, hip dysplasia, small penis, retinal dysplasia, foveal hypoplasia, preauricular skin tag, diaphramatic hernia, supernumerary nipple, short metacarpals and metatarsals, cryptorchidism, scoliois | ||||
| G25 | Array | Complete 2,3 toe | + | + | Normal | Anteverted nares, short nose, hyperextensible joints, leg length discrepancy, DD | |||
| G26 | Array | HL | Agenesis of CC, cerebellar and brainstem hypoplasia, midline cyst | Oral frenula, hydronephrosis, DD | |||||
| G27 | QPCR | + | + | ||||||
| G28 | HB, FB | Pontocerebellar hypoplasia, hypoplasia of the CC | Facial dysmorphism, redundant tongue tissue, ruffled gums, horseshoe kidney, deceased at 5 months, 2 affected siblings | ||||||
HB, hands bilateral; HR, hand right; HL, hand left; HB3, wide thumbs; FB, foot bilateral; FR, foot right; FL, foot left; FB3, wide great toes; CC, corpus collosum; CSF, cerebral spinal fluid; GH, growth hormone; SZ, seizures; DD, developmental delay; VSD/ASD, ventricular/atrial septal defect; +, presence of finding.