Lower Lip Pits: Van der Woude or Kabuki Syndrome?

2014 ◽  
Vol 51 (6) ◽  
pp. 729-734 ◽  
Author(s):  
Ferri P. David-Paloyo ◽  
Xuecai Yang ◽  
Ju-Li Lin ◽  
Fen-Hwa Wong ◽  
Yah-Huei Wu-Chou ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Clinical Spectrum ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Multiple Congenital Anomaly ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Long Term Prognosis

Kabuki syndrome (KS) is a multiple congenital anomaly/mental retardation syndrome with characteristic facial features. Despite more than 350 documented cases and recent correlation of MLL2 mutations as a genetic cause, its full clinical spectrum is still being defined. This report describes two patients who were initially diagnosed with Van der Woude syndrome (VWS) based on the presence of lower lip pits. However, this finding can occur with KS, albeit infrequently. For patients with lower lip pits, a thorough evaluation should be made to distinguish between VWS and KS, as there are differences in long-term prognosis.

The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies

2021 ◽  
Vol 21 ◽  
Author(s):  
Molood Safarirad ◽  
Ali Abbaszadeh Ganji ◽  
Saba Fekrvand ◽  
Reza Yazdani ◽  
Ahmad Vosughi Motlagh ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Intellectual Disability ◽  
Definitive Diagnosis ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Rare Congenital Anomaly ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
First Case ◽  
Whole Exome

: Kabuki syndrome is a rare congenital anomaly/mental retardation syndrome characterized by intellectual disability, developmental delay, short stature, facial dysmorphic features including ectropion of the lateral third of the lower eyelids and long palpebral fissures, and prominent finger pads. Pathogenic variants of KMT2D (MLL2) and KDM6A are found to be the major causes of Kabuki syndrome. Here, we report the first Iranian case with Kabuki syndrome with an IQ of 79, two episodes of viral pneumonia and distinctive facial features, prominent ears and persistent fetal fingertip pads. These characteristics raised our suspicion for performing whole-exome sequencing (WES), which revealed 2 heterozygous pathogenic missense variants in the KMT2D gene: c.C10024T in exon 34 leading to p.R3342C and c.G15005A in exon 48 leading to p.R5002Q. Hence, the definitive diagnosis of Kabuki syndrome was made based on molecular findings along with the intellectual disability and characteristic facial features.

scholarly journals Barber-Say syndrome: further delineation of the clinical spectrum

2000 ◽  
Vol 23 (2) ◽  
pp. 265-267 ◽  
Author(s):  
Fanny M. Cortés ◽  
Ledia A. Troncoso ◽  
Angélica R. Alliende ◽  
Bianca L. Curotto
Keyword(s):  
Congenital Anomaly ◽  
Clinical Spectrum ◽  
Multiple Congenital Anomaly ◽  
Anomaly Pattern ◽  
Thick Skin

We report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism, the 5th reported case of Barber-Say syndrome. Our patient had almost the same phenotype as that of the patient cited by Martínez Santana et al. (Am. J. Med. Genet. 47: 20-23, 1993) including the same until then undescribed dermatoglyphic pattern.

Craniosynostosis in Kabuki syndrome

2010 ◽  
Vol 6 (2) ◽  
pp. 198-201 ◽  
Author(s):  
Juan F. Martínez-Lage ◽  
Matías Felipe-Murcia ◽  
Encarna Guillén Navarro ◽  
María-José Almagro ◽  
Antonio López López-Guerrero ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Surgical Correction ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Neurological Manifestations ◽  
Skeletal Anomalies ◽  
Moderate Mental Retardation ◽  
Cns Anomalies

Niikawa-Kuroki, or Kabuki syndrome (KS), is characterized by distinctive facial features, skeletal anomalies, persisting fingertip pads with dermatoglyphic abnormalities, short stature, and mental retardation. Neurological manifestations and CNS anomalies have been described in some patients with this condition. However, craniosynostosis has been documented in only 4 patients with KS who did not undergo operations. The authors report a case of KS with unicoronal synostosis that constitutes the first documented instance of a patient with this syndrome submitted to surgery. Previous reported instances of craniosynostosis occurring in KS are briefly reviewed. Although rarely documented, craniosynostosis might represent a relatively frequent feature of this syndrome. Kabuki syndrome should be considered at the time of evaluating children with craniosynostosis. The diagnosis of KS can be suspected from the patients' characteristic facial features. Kabuki syndrome appears to be an underdiagnosed condition in the craniosynostosis population. Given that most patients with this syndrome suffer from only mild to moderate mental retardation, surgical correction can be considered in instances of KS with craniosynostosis.

Smith-Lemli-Opitz Syndrome

2017 ◽  
Author(s):  
Ryan W. Lee
Keyword(s):  
Congenital Anomaly ◽  
Inborn Error ◽  
Cholesterol Synthesis ◽  
Plasma Cholesterol ◽  
Autism Spectrum ◽  
Behavioral Phenotype ◽  
Facial Features ◽  
Multiple Congenital Anomaly ◽  
Opitz Syndrome

Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis. Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small nose with anteverted nares, and micrognathia. Acral dysgenesis is common, foremost of which involve syndactyly and polydactyly. Children with SLOS often have a behavioral phenotype within the autism spectrum.

Homozygous SALL1 mutation causes a novel multiple congenital anomaly mental retardation syndrome

2013 ◽  
Vol 44 (S 01) ◽  
Author(s):  
J Vodopiutz ◽  
H Zoller ◽  
AL Fenwick ◽  
R Arnhold ◽  
M Schmid ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Multiple Congenital Anomaly
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