Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic muscle weakness: a variant of Niikawa-Kuroki syndrome or a new syndrome?

Journal of child neurology - 1 Apr 2001

Greco D, Romano C, Elia M

Abstract excerpt

We report a 10-year-old boy with multiple congenital anomalies/mental retardation syndrome, who also presented with aganglionosis and neurogenic muscle weakness. Some phenotypic manifestations of our patient overlap with those observed in the Niikawa-Kuroki syndrome; however, the hypothesis of a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Bone and Bones
Share to Central Nervous System Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ganglia

Share to Muscle Weakness

Share to Neurologic Examination

Share to Peripheral Nervous System Diseases

Source

Identifiers

PMID: 11332467
DOI: 10.1177/088307380101600414

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11332467-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic muscle weakness: a variant of Niikawa-Kuroki syndrome or a new syndrome?PMID 11332467Read ↗

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.Semantic proximity Read ↗

Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.Semantic proximity Read ↗

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.Semantic proximity Read ↗

Phenotypic spectrum and management issues in Kabuki syndrome.Semantic proximity Read ↗

[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases].Semantic proximity Read ↗

[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus].Semantic proximity Read ↗

New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients.Semantic proximity Read ↗

Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role?Semantic proximity Read ↗

Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases.Semantic proximity Read ↗

Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome).Semantic proximity Read ↗

Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus.Semantic proximity Read ↗

[Clinical features of congenital myasthenic syndrome in Japan].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.