Corrigendum: Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic

The authors have brought to the publisher's attention that there were some errors in [Fig. 3] and [Supplementary Table S1] published in the above article in Neuropediatrics, (DOI: 10.1055/a-2430-0494). The corrected [Fig. 3] and [Supplementary Table S1] appear as follows:

Fig. 3 Chromosomal distribution of deletions and duplications based on aCGH analyses. aCGH, array comparative genomic hybridization.

Supplementary Table S1 Affected developmental domain, dysmorphic feature, brain imaging findings, and other important clinical findings of patients with a pathogenic variant

Number and gender (M = male, F = female)	Genetic diagnosis	Detailed genetic result	Affected developmental domains	Dysmorphic features	Other important findings	Metabolic screening	Brain imaging
1 F	2q37.3 deletion syndrome, mosaic	arr[GRCh37] 2q37.3(239195948_243068396) × 1[0.47] dn	Gross motor, speech, cognition	Prominent parietooccipital regions, downward slanting palpebral fissures, epicanthus, poorly defined helix, and otapostasis	Hypotonia	Standard	Not performed
2 M	2q37.3 deletion syndrome	arr[GRCh37] 2q37.3(241110554_243007359) × 1 mat	Gross motor, speech	Hypertelorism, macrocephaly		Standard and specific	CT scan: normal
3 F	4q13.1q13.3 deletion, includes ANKRD17; pathogenic	arr[GRCh37] 4q13.1q13.3(64160111_75772429) × 1	All domains	Frontal bossing, smaller chin, short stature	Coloboma of an iris and a retina	Standard	MRI: a hypoplastic corpus callosum, enlarged lateral ventricles, reduced size of a pituitary gland and oliguria
4 F	Sotos syndrome (OMIM: 117550) due to the deletion in 5q35 that includes NSD1 gene	arr[GRCh37] 5q35.2(175740461_175996710) × 3, 5q35.2q35.3(176235002_177047120) × 1	Fine and gross motor, speech, cognition	Dolichocephaly, a triangular face, macrocephaly, frontal bossing, a high hairline, hypertelorism, a high arched palate, a saddle nose, low-set ears, macrosomia		Standard	MRI: a hypoplastic corpus callosum
5 M	Coffin–Siris syndrome (OMIM: 135900) due to the intragenic ARID1B deletion	arr[GRCh37] 6q25.3(157159360_157423012) × 1	All domains	A high arched palate		Standard and specific	MRI: normal (minor cysts of the choroid plexus and an arachnoid cyst)
6 M	Intellectual developmental disorder, autosomal dominant 26 (OMIM: 615834) due to the intragenic AUTS2 deletion	arr[GRCh37] 7q11.22(69583363_69661867) × 1	Gross motor, speech	Macrocephaly, a saddle nose, low-set ears, microretrognathia	Hypotonia	Standard	MRI: cavum septum pellucidum cyst, cavum verge. Hypomyelinated deep white matter in the frontal and parietal regions
7 M	Intellectual developmental disorder, autosomal dominant 26 (OMIM: 615834) due to the intragenic AUTS2 deletion	arr[GRCh37] 7q11.22(70132824_70274344) × 1	Fine and gross motor, speech	Micro- and brachycephaly, downward slanting palpebral fissures	Generalized hypotonia, feeding problems	Standard and specific	Not performed
8 M	8p23.1 deletion syndrome	arr[GRCh37] 8p23.1(8866317_10995452) × 1	All domains	A high arched palate, slightly small, low-set ears		Standard and specific	MRI: mild white matter hyperintensities. Mild epidural lipomatosis of the thoracic segments of the spinal canal
9 M	Terminal 8p23.3 deletion	arr[GRCh37] 8p23.3(194617_2132396) × 1	Speech, cognition	A wide nasal bridge		Standard	MRI: hippocampal malrotation, mild hypoplasia of the corpus callosum
10 M	8p23.1 duplication syndrome (ORPHA251076)	arr[GRCh37] 8p23.1(8130630_12404062) × 3	Gross motor, speech, cognition, social	Macrocrania, frontal bossing, a tented mouth		Standard and specific	MRI: enlarged anterior horns of the lateral ventricles, enlarged subarachnoid space in the frontal and frontotemporal region. Moderate dilatation of the third and fourth ventricle, aqueduct and cisterna magna—chronic hydrocephalus susp.
11 M	9q34 duplication syndrome	arr[GRCh37] 9q34.13q34.2(134987671_137180592) × 3	Gross motor, speech	Dolichocephaly, low set and protruding ears, a saddle nose, a tented mouth, short stature		Standard.	Not performed
12 M	Lamb–Shaffer syndrome (OMIM: 616803) due to intragenic SOX5 deletion	arr[GRCh37] 12p12.1(23817962_23853157) × 1	Gross motor, speech, cognition, social	None		Standard.	Not performed
13 M	KDM5A genopathy (El Hayek–Chahrour neurodevelopmental syndrome)	arr[GRCh37] 12p13.33(311657_1456832) × 1 AND KDM5A(NM_001042603.3:c.1942C > T) pathogenic variant	Gross motor, speech	Nonspecified dysmorphic signs	Generalized hypotonia, joints hypermobility	Standard	MRI: hypoplastic corpus callosum, signs of mild periventricular leukomalacia (PVL)
14 F	Lamb–Shaffer syndrome (OMIM: 616803) due to partial SOX5 tandem duplication	arr[GRCh37] 12p12.1(23756985_23948831) × 3	Gross motor, speech, cognition	None		Standard and specific	MRI: mild hyperintensity of the parietal deep white matter
15 F	Interstitial 4q12q13.3 deletion	arr[GRCh37] 4q12q13.3(59167158_72771891) × 1	Gross motor, speech	None	Bilateral hip dysplasia, hypotonia, joints hypermobility	Standard	Not performed
16 F	15q11.2 microdeletion (OMIM: 615656)	arr[GRCh37] 15q11.2(22842145_23091180) × 1	Speech, fine and gross motor	None		Standard	Not performed
17 M	15q11.2 microdeletion (OMIM: 615656)	arr[GRCh37] 15q11.2(22842145_23091180) × 1	Gross motor, speech	None		Standard	MRI: mild abnormalities
18 M	Interstitial 16q11.2q12.1 deletion	arr[GRCh37] 16q11.2q12.1(46500741_51492021) × 1	Gross motor, speech	Low-set ears, a pendant in front of right ear, elongated philtrum and a thin upper lip, micrognathia, anteriorly displaced anus, incomplete prepuce, microcephaly		Not performed	Not performed
19 M	16p11.2 microdeletion syndrome (OMIM: 611913)	arr[GRCh37] 16p11.2(29678569_30197341) × 1	Speech, cognition	Hypertelorism and downward slanting palpebral fissures, a triangular face	Congenital hypotonia	Standard	MRI: normal
20 F	16p11.2 microdeletion syndrome (OMIM: 611913)	arr[GRCh37] 16p11.2(29678569_30197341) × 1	Gross and fine motor, speech, cognition	Narrow, triangular face, thin lips	Hypotonia	Standard	MRI: normal
21 F	16p13.11 microdeletion syndrome (additional VUS of intragenic IL1RAPL1 gene duplication) (OMIM: 300143)	arr[GRCh37] 16p13.11(15126709_16292235) × 1,Xp21.2(29413516_29417617) × 3	Speech, cognition	None		Standard and specific	MRI: mildly altered T1-signal in the globus pallidus and thalamus—metabolic cause? Pineal cyst—incidental finding
22 F	Interstitial 16q23.2q23.3 deletion	arr[GRCh37] 16q23.2q23.3(81058295_83819748) × 1	Fine motor, speech	None	Epilepsy (first abnormal EEG at the age of 4.5 years), ADHD syndrome, autism susp.	Standard	MRI: normal
23 M	Interstitial 16q23.1q24.1 deletion	arr[GRCh37] 16q23.1q24.1(79015710_84438495) × 1	Gross motor, speech	Brachycephaly, wide nasal bridge, hypertelorism, low-set ears, microretrognathia		Standard and specific	MRI: hypoplastic corpus callosum in the posterior part of the trunk and the splenium, mild enlargement of the suprasellar cistern and hypoplastic optic chiasm
24 M	Smith–Magenis syndrome (OMIM: 182290)	arr[GRCh37] 17p11.2(16637902_20294038) × 1	All domains	Facies adenoid, open bite, wide nasal bridge, short toes	Generalized hypotonia	Standard	Not performed
25 M	Phelan–McDermid syndrome (OMIM: 606232)	arr[GRCh37] 22q13.2q13.33(43506447_51178264) × 1	All domains	Mild macrocephaly, prominent nose septum, large, protruding, and low-set ears, tented mouth, micrognathia, Pierre Robin sequence	Bilateral congenital hydronephrosis, atrial septal defect, bicuspid aortic valve, persistent left superior vena cava	Not performed	Not performed
26 M	FraX syndrome (OMIM: 300624)	>200 CGG repeats in FMR1 gene (pathogenic variant)	Speech, fine and gross motor, social	Macrosomia, macrocrania		Standard and specific	Not performed
27 F	Xq22.2q22.3 deletion, including PLP1 gene (OMIM: 312080)	arr[GRCh37] Xq22.2q22.3(102659225_104348122) × 1	Gross motor, speech	Wide mouth, short philtrum, large tongue, short thumbs		Standard	MRI: PVL
28 M	Intellectual developmental disorder, autosomal dominant 39 (OMIM: 616521)	MYT1L (NM_001303052.2: c.1573C > T) likely pathogenic variant (aCGH normal)	Fine and gross motor, speech	None	Joint hypermobility	Standard	MRI: abnormal
29 F	Xia Gibbs syndrome (OMIM: 615829)	AHDC1 (NM_001029882.3:c.943C > T) pathogenic variant (aCGH normal)	Gross motor, speech, cognition, social	Frontal bossing, hypomimia		Standard	MRI: moderate ventriculomegaly, hypoplastic corpus callosum, reduced volume of the upper part of the vermis and the medial parts of the cerebellar hemispheres
30 F	Intellectual developmental disorder, autosomal dominant 26 (OMIM: 615834)	AUTS2 (NM_015570.4:c.1603_1626del) pathogenic variant (aCGH normal)	All domains	High arched palate, sunken eyes, frontal bossing, slightly shorter corpus and ramus of mandibulae, pronounced nasal tip, asymmetrical face, pointed fifth finger on both hands		Standard and specific	MRI: periventricular white matter hyperintensity—neurodegenerative disorder? Less likely periventricular leukomalacia. Follow-up MRI showed no signs of a progressive disease
31 F	Rett syndrome (OMIM: 312750)	MECP2 (NM_004992.3:c.377 + 1G > T) pathogenic variant (aCGH normal)	Fine and gross motor, speech, cognition	None	Stereotyped behavior	Standard	Not performed
32 F	SBBYSS syndrome (OMIM: 603736)	KAT6B (NM_001370136.1:c.3022–1G > A) pathogenic variant (aCGH normal)	Gross motor, speech	Hypertelorism, epicanthus, frontal bossing		Not performed	Cranial ultrasound: slightly enlarged lateral ventricles
33 F	Rett syndrome (OMIM: 312750)	MECP2 (NM_004992.3:c.316C > T) likely pathogenic variant (aCGH normal)	All domains	Microcephaly	Epilepsy (first abnormal EEG at the age of 3 years), generalized hypotonia, extrapyramidal signs	Standard and specific	MRI: global cerebral atrophy, more pronounced in the frontotemporal region
34 M	Alpha-thalassemia/mental retardation syndrome, X-linked 1 (OMIM:301040)	ATRX (NM_000489.5:c.6254G > A) pathogenic variant (aCGH normal)	All domains	Hypertelorism, frontal bossing, clinodactyly		Standard and specific	Not performed
35 M	Hypomyelinating leukodystrophy type 14 (OMIM: 617899)	UFM1 (NM_001286704.2: c.170_171 + 1delAAG – class 4 AND c.278G > A – class 3P) (aCGH normal)	Fine and gross motor, speech, cognition	None		Standard and specific	MRI: abnormal
36 F	Intellectual developmental disorder, X-linked syndromic, Snijders Blok type (OMIM: 300958)	DDX3X (NM_001356.3:c.643A > T) pathogenic variant (aCGH – likely benign maternally inherited deletion (arr[GRCh37] 1q31.2(191923093_192268476) × 1)	Gross and fine motor, speech	None		Standard	MRI: normal
37 M	Mental retardation, autosomal dominant, 56 (OMIM: 617854)	CLTC (NM_001288653.1:c.3763C > T) pathogenic variant (aCGH – likely benign maternally inherited duplication (arr[GRCh37] 5q11.1q11.2(50288877_50840847) × 3)	Gross and fine motor, speech, cognition	Epicanthus, a wide nasal bridge, tented mouth		Standard	MRI: normal
38 F	PDX1 deficiency (OMIM: 608769)	PDHX (NM_003477.3):c.1204G > T) homozygous likely pathogenic variant	Gross motor, speech	Decreased facial expression, high arched palate	Hypotonia, hand stereotypies	Standard and specific	MRI: Mild to moderate ventriculomegaly
39 F	Mental retardation, autosomal dominant, 57 (OMIM: 618050)	TLK2 (NM_001284333.2:c.1339G > A) likely pathogenic variant (aCGH normal)	Gross motor, speech	Hypertelorism, epicanthus, low set, protruding ears, short fingers (especially, the thumb), polydactyly, a high forehead, a small mouth, and chin		Standard	MRI: MRI changes consistent with a mild perinatal hypoxia. Atypical hippocampal development, no signs of metabolic disease
40 F	UNC80 deficiency (OMIM: 616801)	UNC80–compound heterozygous for 2 pathogenic variants (NM_001371986.1:c.1696C > T and NM_001371986.1:c.5371delC) (aCGH normal)	All domains	A tented mouth	Generalized hypotonia, auto-aggressive behavior	Standard and specific	MRI: normal
41 M	Intellectual developmental disorder, autosomal dominant 5 (OMIM: 612621)	SYNGAP1 (NM_006772.3:c.3219delT) pathogenic variant (aCGH normal)	Speech, gross motor, cognition	Frontal bossing, a wide nasal bridge, low-set ears, small chin. Limbs: overlapping toes of the right foot, bilateral sandal gap		Not performed	Not performed
42 M	Kleefstra syndrome (OMIM: 610253)	EHMT1 (NM_024757.5:c.1588C > T) pathogenic variant (aCGH normal)	Fine and gross motor, speech, cognition	Hypertelorism, bluish sclerae, facies adenoid, thicker and hard blond hair, a large tongue	Generalized hypotonia, joints hypermobility	Standard and specific	MRI: white matter atrophy in periventricular region suggestive of a moderate PVL. Hypoplastic mesencephalon and pons
43 F	Neurodevelopmental disorder with poor language and loss of hand skills (OMIM: 617903)	GABBR2 (NM_005458.8:c.1699G > A) pathogenic variant (aCGH normal)	Gross motor, speech	None		Standard and specific	MRI: normal
44 M	Pitt–Hopkins syndrome (OMIM: 610954)	TCF4 (NM_001243226.2:c.806–1G > A) pathogenic variant	All domains	Poorly defined ear helixes, a tented mouth		Standard and specific	MRI: mild PVL susp.
45 F	Developmental and epileptic encephalopathy 42 (OMIM: 617106)	CACNA1A (NM_023035.2:c.5006G > A) pathogenic variant	Gross motor, speech, cognition	None		Standard	MRI: Hypoplastic vermis and dorsal part of the pons, mildly enlarged fourth ventricle and cisterna magna
46 F	Glass syndrome (OMIM: 612313)	SATB2 (NM_001172509.2:c.823C > T) likely pathogenic variant (aCGH normal)	Gross and fine motor, speech, cognition	A cleft palate	Mild to moderate sensorineural hearing loss	Standard	Cranial ultrasound: no significant changes
47M	Sotos syndrome (OMIM:117550)	NSD1 (NM_022455.5):c.4497 + 2T > C) pathogenic variant (aCGH normal)	Gross motor, speech, cognition, social	Macrosomia, macrocephaly, downward slanting palpebral fissures, tented mouth, high arched palate		Standard	MRI: hypomyelinated WM. Mildly enlarged lateral ventricles. A hypoplastic corpus callosum. Persistent cavum septum pellucidum and cavum verge
48 F	Intellectual developmental disorder with dysmorphic facies, speech delay, and T cell abnormalities (OMIM: 618092)	BCL11B (NM_138576.4:c.2014_2023dupA) likely pathogenic variant (aCGH normal)	Fine motor, speech, cognition, social	Microcephaly, retrognathia, small ears		Standard	MRI: abnormal gyration in the temporal lobes and thicker cortex
49 F	Intellectual developmental disorder, autosomal dominant 5 (OMIM: 612621)	SYNGAP1 (NM_006772.2:c.3200delC) pathogenic variant (aCGH – likely benign maternally inherited duplication (arr[GRCh37] 13q34(114843912_115067041) × 3)	Gross motor, speech, cognition	Hypertelorism	Epilepsy (first pathologic EEG at the age of 2 years)	Standard and specific	MRI: slight asymmetry of the cerebral hemispheres with mild enlargement of the left cerebral hemisphere and the left lateral ventricle—variant? Hemimegalencephaly? Thinner corpus callosum, mild enlargement of the third ventricle and fourth ventricle, cisterna magna and suprasellar cisterna -developmental? Spectroscopy: slightly elevated lactate and slightly reduced N-acetylaspartate—metabolic disorder?
50 F	Epilepsy, progressive myoclonic, 11 (OMIM: 618876)	SEMA6B (NM_032108.4:c.2032G > T) likely pathogenic variant (aCGH normal)	All domains	None		Standard.	MRI: normal
51 M	Bainbridge–Ropers syndrome (OMIM: 615485)	ASXL3 (NM_030632.3:c.3364C > T) pathogenic variant	All domains	A thin upper lip, wide philtrum, flexion wrist contracture, high arched palate, and abnormality of a tongue		Standard and specific	MRI: dysmyelination in the parietal regions with loss of volume of the deep white matter, severely thinned corpus callosum—atrophic or hypoplastic. Moderately dilated and deformed lateral ventricles. Nonspecific changes suggestive of a metabolic or a genetic disorder
52 M	Kleefstra syndrome (OMIM: 610253)	EHMT1 (NM_024757.4:c.736C > T) likely pathogenic variant (aCGH normal)	Fine and gross motor, speech	A wide nasal bridge, epicanthus, hypertelorism, frontal bossing, midface hypoplasia		Standard	Not performed
53 M	Coffin-Siris syndrome-6 (OMIM: 617808)	ARID2 (NM_152641.4:c.4640_4659delC) pathogenic variant (aCGH normal)	Gross motor, speech	Frontal bossing, saddle nose, hypoplastic teeth, enlarge anterior fontanelle at the age of 22 mo	Strabismus and nystagmus	Standard and specific	MRI: normal
54 M	SAS syndrome (OMIM: 612313)	SATB2 (NM_001172509.2:c.738T > A) likely pathogenic variant (aCGH normal)	Gross and fine motor, speech	Cleft palate		Standard	Not performed
55 F	Cowden syndrome (OMIM: 601728)	PTEN (NM_001304717.5:c.728 + 2T > C) pathogenic variant (aCGH normal)	Gross motor, speech	Macrocephaly, hypomimia, facies adenoid	Generalized hypotonia, joints hypermobility. Vascular malformation of the capillary-venous type on the upper limb, bilateral ptosis	Standard	Not performed
56 M	GAND syndrome (OMIM: 615074)	GATAD2B (NM_020699.4:c.387dup) likely pathogenic variant (aCGH normal)	Gross motor, speech	Macrocephaly		Standard and specific	MRI: delayed myelination and hypomyelination in the deep white matter. Mild reduction of the white matter volume supratentorial, with mild ventricles and the subarachnoid space enlargement. Enlarged aqueduct. Ventriculomegaly due to atrophy or moderate chronic communicant hydrocephalus
57 M	Jacobs syndrome	Karyotype analysis 47,XYY	Gross motor, speech	High stature	Joints hypermobility, convergent strabismus, motor tics, developmental coordination disorder	Standard and specific	Not performed
58 M	13q terminal deletion syndrome	Terminal deletion with final karyotype 46,XY,del(13)(q31)	Gross motor, speech	Microcephaly, saddle nose, epicanthus, low-set ears, short neck, hypotelorism, high arched palate, small penis, short perineum, poorly formed anal sphincter, cryptorchidism, short stature		Not performed	MRI: mild diffuse brain atrophy, alobar holoprosencephaly, atretic parietal encephalocele, mild hypoplastic vermis with incomplete rotation—Dandy–Walker malformation

Abbreviations: ADHD, attention deficit hyperactivity disorder; CT, computed tomography; EEG, electroencephalogram; MRI, magnetic resonance imaging.

Publication History

Article published online:
16 January 2025