Table 1 Clinical features in patients with 20p12.3 deletion
From: 20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature
First author of reference | Deletion | Congenital abnormalities | |
|---|---|---|---|
Our patient | De novo 20p12.3 deletion | Failure to thrive, psychomotor delay Small forehead, hypertelorism, downslanting palpebral fissures, low set ears, broad nasal bridge, bulbous nose, short philtrum, down turned corners of the mouth, microstomia, micrognathia, widespread tooth decay, dental overlapping Cleft palate, bifid uvula | |
Lalani et al. [8] | Patient 1 | De novo 20p12.3 deletion | Failure to thrive, Neurocognitive delay Downslanting palpebral fissures, bilateral epicanthal folds, broad nasal root and bridge, malar hypoplasia, full cheeks, microstomia, Persistent fetal pads Wolff parkinson white syndrome |
Patient 2 | Maternal 20p12.3 deletion | Short stature, Macrocephaly, Neurocognitive delay, motor delay Frontal upsweep, downslanting palpebral fissures, epicanthal folds, hypertelorism, small ears with thickened helices, long philtrum, microstomia, Broad thumbs/toes with persistent fetal pads Wolff parkinson white syndrome | |
Patient 3 | De novo 20p12.3 deletion | Macrocephaly, Neurocognitive delay, motor delay Hypertelorism, malar hypoplasia, persistent fetal pads | |
Sahoo et al. [9] | Patient 1 | Maternal 20p12.3 deletion | Failure to thrive, microcephaly micrognathia, Pierre Robin sequence, large communicating fontanelles, long philtrum, pectus excavatum, diastasis recti, gap between halluces and second toes, vertical creases, deep palmar flexion creases, short 5th fingers Cleft palate Patent foramen ovale |
Patient 2 | ? | Failure to thrive, microcephaly, language deficits Large eyes, synophrys, long philtrum, upturned nose, microstomia Deafness, cholesteatoma Cleft palate, high-arched hard palate, bifid uvula Zygodactylous triradius between the 2nd and 3rd rightoes | |
Patient 3 | De novo 20p12.3 deletion | Failure to thrive, motor deficits with a head lag and wobble, delayed/poor reflexes, central hypotonia and feeding difficulties Flat facial profile, prominent forehead, downslanting palpebral fissures, depressed nasal bridge, small, upturned nose with anteverted nares, pinpoint hemangioma on the tip of the nose, long philtrum, micrognathia, transverse crease across the chin Decreased muscle mass, subtle hyperextensibility of hands and feet, recurrent hip dislocations and developmental dysplasia of the hips U-shaped cleft palate | |
Williams et al. [7] | Paternal 20p12.3 deletion | Failure to thrive, microcephaly, psychomotor delay, microretrognathia, widened palpebral fissures, long philtrum, digital hypoplasia of second and third toes, self-stimulatory behaviors, mild dextroscoliosis, central incisors, bifid uvula, cleft palate | |