Table 2.
Summary of clinical and dysmorphic findings of patients
| Case ID | Presenting symptoms | Dysmorphic facial findings | MRI findings |
|---|---|---|---|
| P1 | Decreased fetal movements at intrauterine period, resistant epilepsy, neuromotor developmental delay, severe learning disability, microcephaly, upper and lower limb muscle weakness, pes equinusvarus, spasticity, contracture lower extremities, increased deep tendon reflexes, proximal muscle atrophy, strabismus | Brachycephaly, flat occiput, square face, narrow forehead, sloping forehead, malar flatting, pointed chin, deeply set eyes, thick eyebrows, almond-shaped palpebral fissure, telecanthus, prominent inferior crus of antihelix, prominent antihelix stem, prominent superior crus of antihelix, underdeveloped crus helix, large lobe, bifid tragus, low insertion of columella, enlarged nares, wide nasal bridge, depressed nasal bridge, wide nasal ridge, midline sinus of philtrum, thin upper lip vermilion, thick lower lip vermilion | Hydrocephalus, thin corpus callosum |
| P2 | Neuromotor developmental delay, mild learning disability, dysmetria and dysdiadochokinesia, seizure, imbalance to especially right side, generalized hypertrichosis, dysmorphic facial features | Square face, broad forehead, premaxillary underdevelopment, broad jaw, full cheeks, broad and horizontal eyebrow, long palpebral fissure, synophrys, telecanthus, long ear, underdeveloped crus helix, underdeveloped tragus, broad columella, wide nasal bridge, broad philtrum, smooth philtrum, prominent nasolabial fold, thick low and upper lip vermilion | Diffuse cerebellar atrophy |
| P3 | Walking disability, moderate learning disability, decrease of muscular power at extremities, bilateral 5th trigger finger, foot spasticity, increase of deep tendon reflex, pes cavus | Hypertelorism, horizontal eyebrow, downslanted palpebral fissure, telecanthus, prominent antitragus, expanded terminal portion of crus helix, macrotia, broad columella, low insetion of columella, enlarged nares, wide nasal bridge, wide nasal ridge, broad nasal tip, thin upper lip vermilion, diastema in anterior incisor teeth | Periventricular hyperintensity |
| P4 | Global developmental delay, severe learning disability, skeletal muscle weakness, increased creatinine level, macroglossia, joint contractures, spinal scoliosis, hypertrichosis | Brachycephaly, flat occiput, triangular face, narrow forehead, prominent cheekbone, prominent nasolabial fold, broad chin, long palpebral fissure, prominent antihelix stem, prominent antitragus, expanded terminal portion of crus helix, wide nasal base, wide nasal bridge, broad nasal tip, deep philtrum, everted lower lip vermilion, thin lower lip vermilion, downturned corners of mouth, wide mouth | Normal |
| P5 | Neuromotor developmental delay, severe learning disability, microcephaly, autistic behaviors, pulmonary stenosis, epiphyseal changes in the proximal phalanges, strabismus, tortuous at retinal blood vessels, hyperkeratosis, diabetes mellitus type 2, short stature, pes planus | Brachycephaly, coarse face, malar prominence, midface prominence, prominent nasolabial fold, broad chin, hypertelorism, deep-set eyes, broad eyebrow, infraorbital crease, angulated antihelix, underdeveloped antihelix crus superior, prominent antitragus, long ear, low-set ears, protruding ears, anterior crease lobes, large lobes, macrotia, broad columella, large nose, wide nasal base, depressed nasal bridge, wide nasal bridge, wide nasal ridge, broad nasal tip, long nose, prominent nose, short philtrum, tented philtrum, wide mouth, macrostomia, large tongue | Arnold Chiari malformation type 1 |
| P6 | Neuromotor developmental delay, severe learning disability, seizure, microcephaly, autistic behaviors, pulmonary stenosis, hyperkeratosis | Brachycephaly, short face, square face, full cheeks, malar prominence, midface prominence, premaxillary prominence, broad chin, short chin, hypertelorism, laterally extended eyebrow, deep-set eyes, infraorbital fold, telecanthus, long ears, protruding ears, large lobe, broad columella, large nose, wide nasal base, depressed nasal bridge, wide nasal bridge, wide nasal ridge, broad nasal tip, long nose, short philtrum, tented philtrum, wide mouth, thick lower lip vermilion, macrostomia | Corpus callosum agenesis, distinct vascular structures, venous angioma |
| P7 | Global developmental delay, severe learning disability, autistic behaviors, microcephaly, early closure of anterior fontanelle, lack of eye contact, criptorchidism, left equinovarus foot deformity | Brachycephaly, long face, underdeveloped supraorbital ridges, underdevelopment cheekbone, malar flattening, underdeveloped nasolabial fold, premaxillary, prominence, narrow jaw, pointed chin, hypertelorism, almond-shaped palpebral fissure, telecanthus, prominent antihelix stem, underdeveloped crus superior antihelix, long ears, small lobe, broad columella, anteverted nares, wide nasal base, prominent nasal bridge, wide nasal bridge, wide nasal ridge, broad nasal tip, bulbouse nose, smooth philtrum, absent Cupid's bow, everted lower lip vermilion, thick lower lip vermilion | Normal |
| P8 | Neuromotor developmental delay, severe learning disability, autistic behaviors, microcephaly, seizure, lack of eye contact, criptorchidism | Brachycephaly, flat occiput, full checks, premaxillary prominence, pointed chin, hypertelorism, almond-shaped palpebral fissure, upslanted palpebral fissure, telecanthus, prominent antihelix stem, prominent antihelix inferior crus, prominent antihelix superior crus, angulated antihelix, everted antitragus, protruding ear, crus helix connected to antihelix, small lobe, long ears, low-hanging columella, wide nasal base, depressed nasal bridge, wide nasal ridge, bulbouse nose, short philtrum, everted upper lip vermilion, thick upper lip vermilion | Hydrocephalus |
| P9 | Speech disability, developmental delay, hepatomegaly, mild learning disability, ptosis left eye, otitis media with effusion | Square face, malar flatting, underdeveloped nasolabial fold, broad jaw, broad chin, epicanthus, hypertelorism, downslanted palpebral fissure, telecanthus, prominent anithelix stem, serpenginous antihelix stem, everted antitragus, low-set ear, protruding ear, prominent crus helix, uplifted lobe, short columella, anteverted nares, wide nasal bridge, thick lower lip vermilion | Thin corpus callosum, mucosal thickening at the paranasal sinuses, hyperintense cells in left mastoid cells |
| P10 | Neuromotor developmental delay, inability to walk, inability to talk, spasticity, microcephaly, severe learning disability, fetal akinesia, intrauterine growth restriction, perinatal asphyxia, Y-shaped syndactyly, hypospadias, scoliosis, intestinal obstruction | Narrow forehead, cheekbone underdevelopment, full cheeks, malar flatting, underdeveloped nasolabial fold, tall chin, hypertelorism, thick eyebrows, long eyelashes, prominent eyelashes, upslanted palpebral fissure, telecanthus, underdeveloped antitragus, low-set ears, expanded terminal portion of crus helix, underfolded helix, attached lobe, underdeveloped tragus, underdeveloped ala nasi, short columella, anteverted nares, depressed nasal bridge, wide nasal bridge, wide nasal ridge, depressed nasal tip, broad philtrum, deep philtrum, exaggerated Cupid's bow, thick lower lip vermilion | Periventricular hyperintensity, thin corpus callosum, dilated third and lateral ventricles |
| P11 | Neuromotor developmental delay, inability to walk, inability to talk, spasticity, microcephaly, severe learning disability, fetal akinesia, perinatal asphyxia, Y-shaped syndactyly, hypospadias, scoliosis, intestinal obstruction, abnormal EEG | Frontal balding, narrow forehead, prominent forehead, underdeveloped supraorbital ridges, full cheeks, malar flatting, prominent nasolabial fold, premaxillary prominence, pointed chin, hypertelorism, thick eyebrow, long eyelashes, infra-orbital crease, telecanthus, antihelical shelf, underdeveloped antitragus, cupped ear, low-set ears, protruding ears, expanded terminal portion of crus helix, prominent crus helix, underfolded helix, small lobes, broad columella, low-hanging columella, wide nasal base, nasal bridge depressed, wide nasal bridge, convex nasal ridge, wide nasal ridge, broad nasal tip, midline sinus of philtrum, smooth philtrum, thick lower lip vermilion, thin upper lip vermilion | Dilated lateral ventricles, plagiocephaly |
| P12 | Neuromotor developmental delay, moderate learning disability, delayed psychosocial development, macrocephaly, chronic constipation, strabismus | High anterior hairline, long face, narrow forehead, narrow jaw, pointed chin, tall chin, hypertelorism, sparse eyebrow, long palpebral fissure, telecanthus, prominent inferior crus of antihelix, prominent antihelix stem, prominent superior crus of antihelix, everted antitragus, expanded terminal portion of crus helix, prominent crus helix, low insertion of columella, prominent nasal bridge, broad nasal tip, bulbouse nose, long nose, short philtrum, smooth philtrum, wide mouth, microdontia | Dilated at 4th ventricles, vermis and bilateral cerebellar hemisphere hypoplasia, pachygyria |
| P13 | Neuromotor developmental delay, severe learning disability, delayed psychosocial development, chronic constipation, strabismus | Prominent forehead, full cheeks, premaxillary prominence, short chin, deeply set eye, laterally extended eyebrow, sparse eyebrow, long eyelashes, proptosis, telecanthus, prominent inferior crus of antihelix, prominent antihelix stem, prominent antitragus, low-set ears, expanded terminal portion of crus helix, prominent crus helix, localized underdeveloped helix, bifid tragus, broad columella, depressed nasal bridge, wide nasal bridge, broad nasal tip, bulbouse nasal tip, broad philtrum | Periventricular hyperintensity, vermis and bilateral cerebellar hemisphere hypoplasia, pachygyria |
| P14 | Neuromotor developmental delay, severe learning disability, spastic tetraplegia, arthrogryposis, walking disability, speech disability, seizure | Brachycephaly, flat occiput, flat face, prominent glabella, malar flatting, pointed chin, epicanthus inversus, hypertelorism, deeply set eye, sparse eyebrow, prominent eyelashes, serpenginous antihelix stem, underdeveloped antitragus, cupped ears, low-set ears, expanded terminal portion of crus helix, prominent crus helix, overfolded helix, forward facing lobe, underdeveloped tragus, low-hanging columella, depressed nasal bridge, nasal bridge narrow, midline sinus philtrum, smooth philtrum, U-shaped upper lip vermilion | Bifrontotemporal atrophy, dilated bilateral ventricles and 3rd ventricular, periventricular hyperintensity, thin corpus callosum |
| P15 | Mental motor retardation, seizure, patent ductus arteriosus, cryptorchidism, hypothyroidism | Flat occiput, round face, midface prominence, broad chin, long chin, epicanthus, deep-set eyes, infraorbital crease, long palpebral fissure, synophrys, telecanthus, prominent antihelix stem, prominent antitragus, low-set ears, expanded terminal portion of crus helix, broad columella, wide nasal base, depressed nasal bridge, wide nasal bridge, wide nasal ridge, concave nasal ridge, broad nasal tip, long nose, broad philtrum, short philtrum, smooth philtrum, absent Cupid's bow, U-shaped upper lip vermilion | – |
| P16 | Mental motor retardation, intrauterine growth restriction, perinatal asphyxia, seizure, patent ductus arteriosus, bilateral iris coloboma, hypothyroidism, horizontal nystagmus | Flat occiput, midface prominent, broad chin, bilateral blepharophimosis, synophrys, telecanthus, prominent antihelix stem, prominent antitragus, low-set ears, expanded terminal portion of crus helix, small lobe, wide nasal base, depressed nasal bridge, wide nasal bridge, wide nasal ridge, broad nasal tip, long nose, broad philtrum, short philtrum, smooth philtrum, absent Cupid's bow, thick lower lip vermilion, U-shaped upper lip vermilion | – |
| P17 | Motor development delay, intrauterine growth restriction, cerebellar ataxia, mild learning disability | Flat face, midface prominence, underdeveloped nasolabial fold, pointed chin, telecanthus, prominent antihelix stem, low-set ears, unfolded helix, short columella, wide nasal base, wide nasal ridge, smooth philtrum, thin lower lip vermilion, thin upper lip vermilion | Multiple cysts in millimetric dimensions at both cerebellar hemispheres, irregularities in the cerebellum cortex, cerebellar vermis hypoplasia and enlarged at 4th ventricle |
| P18 | Motor development delay, intrauterine growth restriction, mirocephaly, encephalocele, spasticity at lower and upper extremities, blindness, cerebellar ataxia, mild learning disability, seen lateral ventricles and 3rd ventricular collapsed at CT | Brachycephaly, flat occiput, flat face, underdeveloped nasolabial fold, upslanted palpebral fissures, telecanthus, low-set ears, protruding ears, thick ala nasi, narrow nasal bridge, narrow nasal ridge, narrow nasal tip, smooth philitrum, exaggerated Cupid's bow | – |
| P19 | Motor development delay, small for gestational age, spasticity, severe learning disability, epiphyseal changes, short stature | Dolichocephaly, frontal balding, narrow forehead, underdeveloped supraorbital ridge, full cheeks, malar prominence, premaxillary prominence, pointed chin, entropion, hypertelorism, sparse eyebrows, almond-shaped palpebral fissures, telecanthus, angulated antihelix, prominent antihelix stem, low-set ears, expanded terminal portion crus helix, anterior crease lobe, thick ala nasi, wide nasal base, depressed nasal bridge, wide nasal ridge, broad nasal tip, deep philtrum, exaggerated Cupid's bow, thin upper lip vermilion | Thin corpus callosum |
| P20 | Neuromotor developmental delay, mild learning disability, seizure, generalized hypotonia, progressive vision loss, walking abnormalities | Broad face, full cheeks, midface prominence, broad jaw, short chin, laterally extended eyebrows, long eyelashes, telecanthus, angulated antihelix, prominent antihelix stem, crus helx expanded terminal portion, prominent crus helix, thick ala nasi, short columella, wide nasal base, wide nasal ridge, broad nasal tip, smooth philtrum, absent Cupid's bow, thin upper lip vermilion, wide month | Cortical and central atrophy, enlarged posterior fossa, Dandy-Walker variant |
| P21 | Neuromotor developmental delay, mild learning disability, microcephaly, speech delay, 5th finger clinodactyly | Narrow forehead, metopic depression, depressed glabella, midface prominence, epicanthus, upslanted palpebral fissure, prominent antihelix inferior crus, prominent antihelix stem, everted antitragus, low-set ears, wide nasal base, broad nasal tip, malaligned philtral ridge, thin upper lip vermilion | Dysplastic corpus callosum and polymicrogyria |
| P22 | Neuromotor developmental delay, mild learning disability, speech delay, attention deficit disorder, growth retardation | Full cheeks, malar flattening, midface prominence, epicanthus, telecanthus, angulated antihelix stem, prominent antihelix stem, low-set ears, prominent crus helix, thick ala nasi, broad columella, wide nasal bridge, deep philtrum, exaggerated Cupid's bow | |
| P23 | Neuromotor developmental delay, microcephaly, hypotonia in infancy, seizure, hypospadias, strabismus, nystagmus | Narrow forehead, sloping forehead, full cheeks, midface prominence, short chin, epicanthus inversus, thick eyebrows, long palpebral fissures, upslanted palpebral fissures, prominent inferior crus antihelix, prominent antihelix stem, underdeveloped superior crus antihelix, underdeveloped antitragus, low-set ears, expanded terminal portion crus helix, small lobes, anteverted nares, short columella, wide nasal bridge, broad nasal tip, long philtrum, exaggerated Cupid's bow, wide mouth | – |
| P24 | Neuromotor developmental delay, microcephaly, hypotonia, seizure, strabismus, nystagmus | Brachycephaly, narrow forehead, full cheeks, midface prominence, short chin, epicanthus inversus, thick eyebrows, long palpebral fissures, prominent antihelix stem, prominent antihelix crus inferior, underdeveloped antihelix superior crus, low-set ears, prominent crus helix, expanded terminal portion crus helix, shell ear, Stahl's ear, anteverted nares, short columella, wide nasal base, wide nasal bridge, broad nasal tip, long philtrum, tented upper lip vermilion | Severe cerebral atrophy, left frontoparietal polymicrogyria, bilateral hyperintense thalamus |
| P25 | Neuromotor developmental delay, autistic behaviors, moderate intellectual disability, language impairment | Brachycephaly, flat occiput, malar flattening, midface prominence, epicanthus, thick eyebrows, long palpebral fissures, angulated antihelix, prominent inferior crus of antihelix, prominent antihelix stem, everted antitragus, underdeveloped crus helix, large lobe, high insertion columella, narrow nasal base, depressed nasal bridge, convex nasal ridge, narrow nasal tip, deep philtrum, thick vermilion lower lip, downturned corners of mouth | Normal |