Table 1 Clinical features of patients with “pure” 11qter trisomy
Greig, 1985[[5]] | Pfeiffer, 1993[[8]] | Zimberg, 2011[[17]] | Tug, 2014[[22]] | Zhao, 2003[[12]] | Patient 1 | Patient 2 | Patient 3 | |
|---|---|---|---|---|---|---|---|---|
Head/neck | Microcephaly, large anterior fontanelle | Microcephaly, brachycephaly | Microcephaly, brachycephaly, short neck | Brachycephaly, relative microcephaly, short neck | Microcephaly, plagiocephaly | brachycephaly | Microcephaly, brachycephaly | brachycephaly |
Face | Sparse eyebrows,micrognathia, low set ears, large ears, low hairline | Hypertelorism, large eyes, small nose, high palate, large ears,microstomia,Micrognathia, long eye lashes, strabismus | Broad nasal base, anteverted nares, long philtrum, low set ears | Sparse eyebrows, high palate, short and upslanting palpebral fissures, thin lips, broad nasal base, micrognathia, asymmetric and posteriorly rotated ears, uplifted ear lobules | Round face, Broad nasal base, small nose, bulbous nasal tip, high palate,microstomia ,micrognathia, ,myopia, colobomas, preauricular sinus | Long face, bitemporal narrowing, upslanted palpebral fissures, deep-set eye, full up-eyelid, thick and up-lifting eyebrow, big nose, thick up-lip and short philtrum | Long face, upslanted palpebral fissures, deep-set eye, full up-eyelid, big nose and short philtrum | Long face, bitemporal narrowing, upslanted palpebral fissures, deep-set eye, full up-eyelid, thick and up-lifting eyebrow, big nose, thick up-lip and short philtrum |
Cardio-vascular | — | ASD | ASD, pulmonary stenosis | ASD/PDA, right aorticarch, aberrant left subclavianartery | ASD, malformed epiglottis, tracheomalacia | — | — | — |
Skeletal | Clinodactyly and syndactyly of fingers | NR | Scoliosis, tethered spinal cord, hip islocation | Short and broad halluces | Short limbs, brachydactyly, asymmetric leg lengths | — | — | — |
Skin, nails, hair | Single palmar crease | NR | NR | Single palmar crease,Widely spaced-invertednipples, Sacral dimple, hypoplastic toenails | Single palmar crease | Nevi on the neck and face | Nevi on the neck and face | Nevi on the neck and face, acanthosis nigricans, |
Abdomen | — | Inguinal hernia | Inguinal hernia,Diaphragmatic hernia | — | GER, feeding intolerance | — | — | — |
Genito-urinary | Micropenis, Hypospadias | — | Micropenis/cryptorchidism,Unilateralrenalagenesis | Cryptorchidism | — | — | — | Micropenis/cryptorchidism |
Neurological | Hypotonia,Intellectual seizure/disability,blindness | Intellectual disability,Brain malformation | Hypertonicity,Intellectual disability/seizure, Sensorineural hearing loss | Intellectual disability,Sensorineural hearing loss,Dilatation of third-lateral ventricles, thin corpus callosum | Hypotonia, Intellectual disability, seizure | Intellectual disability,hypalgesia, abnormal brain imaging, seizure, autism spectrum disorder | Intellectual disability,hypalgesia,abnormal brain imaging, schizophrenia | Intellectual disability,seizures, hypalgesia,abnormal brain imaging, autism spectrum disorder |