Cerebro‐facio‐articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome

Zampino, Giuseppe; Colosimo, Cesare; Balducci, Francesca; Mariotti, Paolo; Serra, Fabrizio; Scarano, Gioacchino; Mastroiacovo, Pierpaolo

doi:10.1111/j.1399-0004.1994.tb04011.x

Cited by 17 publications

(12 citation statements)

References 5 publications

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“…The frontal horns of the lateral ventricles were dilated with very significant reduction in the volume of the posterior white matter of both hemispheres. 2 Subsequent to these descriptions, there have been no further published reports. We report six additional individuals (two siblings and four isolated cases) with this condition, as well as follow-up of the original case.…”

Section: Introductionmentioning

confidence: 99%

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

et al. 2012

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We present six patients from five unrelated families with a condition originally described by Van Maldergem et al and provide follow-up studies of the original patient. The phenotype comprises a distinctive facial appearance that includes blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus, intellectual disability, digital contractures and skeletal anomalies together with subependymal and subcortical neuronal heterotopia. Affected patients typically have neonatal hypotonia, chronic feeding difficulties and respiratory problems. In our cohort, we have observed one instance of sibling recurrence and parental consanguinity in three of the families, indicating that autosomal recessive inheritance is likely.

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Section: Introductionmentioning

confidence: 99%

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

et al. 2012

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“…The nine reported patients with VMS all had otologic anomalies (Table SI) [Van Maldergem et al, ; Zampino et al, ; Mansour et al, ; Neuhann et al, ]. All except one patient had bilateral microtia.…”

Section: Discussionmentioning

confidence: 99%

“…A second patient was reported by Zampino et al [] who coined the term cerebro‐facio‐articular syndrome of Van Maldergem. Together with similar facial dysmorphisms and malformed extremities, these authors also reported cerebral anomalies found on Magnetic Resonance Imaging of the brain.…”

Section: Introductionmentioning

confidence: 98%

“…These included abnormalities of the corpus callosum, reduced size of the pons, hypoplasia of the superior cerebellar vermis, cerebellar tonsils, and chiasma opticum. The lateral ventricles were dilated with reduction of thickness of the posterior white matter in both hemispheres [Zampino et al, ]. Neuhann et al [] reported on a third patient, born from consanguineous parents and with the same features, including a hypoplastic corpus callosum.…”

Section: Introductionmentioning

confidence: 99%

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Middle ear abnormalities in Van Maldergem syndrome

Verheij

Thomeer

Pameijer

et al. 2016

American J of Med Genetics Pt A

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Van Maldergem syndrome (VMS) is a very rare syndrome that was first described in 1992. The main features of this syndrome comprise intellectual disability, blepharo-naso-facial malformation, and hand anomalies. Almost all nine described patients have been shown to be affected by conductive hearing impairment attributed to microtia, and atresia of the outer ear canal. Here, we present a VMS patient with congenital malformations of the middle ear as the main reason for severe conductive bilateral hearing impairment. To our knowledge, this is the first report to describe middle ear abnormalities in VMS. These malformations were seen on high resolution Computed Tomography scanning and during an exploratory tympanotomy. Due to the severity of the middle ear abnormalities and the risk for facial nerve damage, the patient was not offered an ossicular chain reconstruction but a bone conduction device after this exploratory tympanotomy. © 2016 Wiley Periodicals, Inc.

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“…In 2013, Cappello et al demonstrated that recessive mutations in the ligand-receptor pair DCHS1 and FAT4 are causative of 2 very similar manifestations of VMS. To date, there are 5 publications that provide detailed phenotypic descriptions of a total of 17 patients with VMS [van Maldergem et al, 1992;Zampino et al, 1994;Mansour et al, 2012;Neuhann et al, 2012;Cappello et al, 2013]. Only Cappello et al [2013], however, provides phenotypic information and the molecular diagnosis for their patients (including 5 patients with mutations in FAT4 ).…”

Section: Discussionmentioning

confidence: 99%

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report

et al. 2017

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We present the case of a patient of Macedonian origin with unilateral renal agenesis and ureterovesical junction obstruction in combination with further abnormalities including midface hypoplasia, scoliosis as well as camptodactyly of one toe. Whole-exome sequencing analysis revealed compound heterozygous variants in the FAT4 gene. Recessive variants in FAT4 are a known cause of van Maldergem syndrome (VMS) in which congenital anomalies of the kidney and urinary tract are a less characteristic but common feature. The initial presentation of our patient was not clinically recognizable. However, in view of the molecular findings, the most likely diagnosis is a mild manifestation of VMS. Only very few publications have reported patients with VMS and mutations in FAT4 to date. With this case, we hope to provide further insight into the phenotypic variability of this syndrome.

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Cerebro‐facio‐articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome

Cited by 17 publications

References 5 publications

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

Middle ear abnormalities in Van Maldergem syndrome

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report

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