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Table 2 Clinical and genetic features

From: A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis

 Patient 1Patient 2Patient 3Patient 4Patient 5Patient 6Patient 7Patient 8Prevalence of clinical features
In our patientsIn the literature8
Presenting featureEsophageal atresia with fistulaCleft lip and palateDouble outlet right ventricle, pulmonary valve stenosis, VSD, ASDBlefarofimosis with microphthalmia and cyst, esophageal atresia with fistulaAxial hypotonia and hypertonia of extremitiesDifficulty in suckingEsophageal atresia with fistulaDifficulty in swallowingNANA
Ocular defectsBilateral chorioretinal colobomaBilateral chorioretinal colobomaBilateral chorioretinal colobomaBilateral coloboma, left blefarofimosis with microphthalmia and cystBilateral chorioretinal colobomaLeft chorioretinal colobomaLeft chorioretinal colobomaNone7/880–90%
Choanal atresiaNoNoNoYesNoNoNoNo1/850–60%
Outer ear anomaliesSquared ears absent lobulesLow set ears with antihelix anomaliesDysplasia of ear padsLow set squared earsDysplasia of ear pads, small lobulesDysplasia of ear padsSquared ears absent lobulesLow set ears with small lobules8/880–100%
Middle ear anomaliesOssicular malformation and right stenotic oval windowNoneNoneRight stapes and incus malformation and stenotic oval windowBilateral stapes and incus malformation and atretic oval windowNoneRight atretic oval windowDysplasia of the stapes and of the oval window5/880–100%
Inner ear anomaliesBilateral hypoplasia of SCC and vestibulum and
cochlear malformation (incomplete partition type II)
Right aplasia of superior and lateral SCC and hypoplasia of left superior and lateral SCC and bilateral posterior SCC.
Left vestibular enlargement
Bilateral cochlear malformation (incomplete partition type II)
Bilateral stenotic Rosenthal’s canal
Bilateral absence of semicircular canals, bilateral cochlear malformation and vestibular dysplasiaBilateral aplasia of SCC, Right cochlear malformation (incomplete partition type II) and vestibular dysplasia. Right stenotic Rosenthal’s canalBilateral absence of SCC, vestibular and cochlear malformation (incomplete partition type II). Bilateral aplasia of Rosenthal’s canalBilateral hypoplasia of lateral SCC and aplasia of posterior SCCBilateral aplasia of SCCBilateral aplasia of superior and posterior SCC, dysplasia of lateral SCC and vestibulum Abnormal right vestibular enlargement8/880–100%
Heart defectsASDPulmonary valve stenosisDouble outlet right ventricle, pulmonary valve stenosis, VSD, ASDVSDASD and PDAPulmonary valve stenosisNoneNone6/875–85%
Tracheoesophageal anomaliesEsophageal atresia with fistulaNoneNoneEsophageal atresia with fistulaNoneNoneEsophageal atresia with fistulaNone3/815–20%
Lip, palate, pharynx, larynxNoneCleft lip and palateNoneNoneVelopharingeal insufficiency, hypotonia of vocal cordNoneNoneSevere laryngomalacia and tracheomalacia3/815–20%
Genital anomaliesNoneNoneNoneGenital hypoplasiaNoneImperforate hymenNoneMicropenis, cryptorchidism,4/850–60%
Renal anomaliesMulticystic left kidneyNoneNoneNoneNoneNoneNoneHorseshoe kidney2/825–40%
Brain anomaliesCerebellar vermis hypoplasiaCerebellar vermis hypoplasiaNoneCerebellar vermis hypoplasiaAxial hypotonia and hypertonia of extremitiesNoneCerebellar and pons hypoplasiaHypotonia6/8NA
Cranial nerve anomaliesHypoplasia of the olfactory bulbs, hypoplasia of optic nerves, bilateral neurosensorial hearing lossHypoplasia of the olfactory bulbs, bilateral neurosensorial hearing lossLeft laryngeal hemiplegia, peripheral paralysis of left facial nerve, deficit in swallowing, bilateral neurosensorial hearing lossAgenesis of olfactory bulbs, hypoplasia of left optic nerve and of left part of optic chiasm, right aplasia of superior vestibular nerveAgenesis of olfactory bulbs, hypoplasia of optic nerves, aplasia of vestibular nerves, bilateral neurosensorial hearing lossAgenesis of olfactory bulbs, hypoplasia of optic nerves, bilateral, right cochlear nerve aplasia, neurosensorial hearing loss, deficit in swallowing and suckingHypoplasia of left olfactory bulbs, hypoplasia of optic nerves, deficit in swallowingDepressor oris, deficit in swallowing, agenesis of olfactory right bulb, hypoplasia of optic nerves, left cochlear nerve aplasia, left neurosensorial hearing loss8/870–90%
Genetic tests performed before CHD7 analysisKaryotype in prenatal periodNoneKaryotype
array-CGH in prenatal period
NoneNoneNoneNoneFISH for 22q11.2, array-CGH, targeted NGS panel for Kallmann S.NANA
CHD7 mutationc.2867C > A; p.Ser956X unknown origin parents not availablec.8745–8746 insA fs2948X unknown origin parents not availablec.2429 C>G;p.Ser810Xfather wt; mother not available c.5428C>T;p.Arg1810Xde novo originc.1465 C > T; p.Gln489X de novo originc. 5050 A > G; p.Gly1684Ser de novo originc.5884 G > A p.Gly1802Asp de novo originc.5405-17G > A; IVS25 de novo originNANA
  1. Array -CGH array comparative genome hybridization, ASD atrial septal defect, CHD7 chromodomain helicase DNA binding protein, CNS central nervous system, NA not applicable, NGS next generation sequencing, PDA patent ductus arteriosus, SCC semicircular canal, VSD ventricular septal defect