A newborn with likely Okamoto syndrome

Taylor, Juliet; Aftimos, Salim

doi:10.1097/mcd.0b013e328337bb8d

Cited by 4 publications

(3 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A search for the combination of cleft palate and Noonan-like features shows a rare condition named Okamoto syndrome which consists of multiple congenital anomalies, developmental delay, and characteristic facial features [Okamoto et al, 1997;Markouri et al, 2008;Taylor and Aftimos, 2010]. The condition was described in five patients, two of them of Caucasian origin.…”

Section: Discussionmentioning

confidence: 97%

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability

Tyshchenko

Neuhann

Gerlach

et al. 2011

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We report on three patients from two families with apparently a novel clinical entity. The main features of which include unusual craniofacial dysmorphism with ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, low-set, posteriorly rotated small ears, as well as conductive hearing loss, cleft palate, heart defect, and mild developmental delay. We suggest that this entity is an autosomal dominant disorder given the occurrence in a mother and daughter as well as in an unrelated boy.

show abstract

Section: Discussionmentioning

confidence: 97%

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability

Tyshchenko

Neuhann

Gerlach

et al. 2011

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Manifestations included severe ID, growth failure, general floppiness, congenital hydronephrosis, cardiac anomalies, a cleft palate, and dysmorphic features. To date, five patients have been reported in six articles (Conteh, Tyagi, & Brooks, ; Markouri et al, ; Okamoto et al, ; Taylor & Aftimos, ; Wallerstein & Rhoads, ; Wallerstein, Shih, Fong, Zheng, & Poon, ). The basic pathogenesis of OS has not been clarified.…”

Section: Discussionmentioning

confidence: 99%

Okamoto syndrome has features overlapping with Au–Kline syndrome and is caused by HNRNPK mutation

Okamoto

2019

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Okamoto syndrome is characterized by severe intellectual disability, generalized hypotonia, stenosis of the ureteropelvic junction with hydronephrosis, cardiac anomalies, and characteristic facial gestalt. Several patients have been reported. The basic mechanism of Okamoto syndrome has not been clarified. Au–Kline syndrome is a new syndrome due to loss‐of‐function variants in the HNRNPK (heterogeneous nuclear ribonucleoprotein K) gene. A new patient with Okamoto syndrome visited our hospital. We noticed that the patient had features overlapping with Au–Kline syndrome. We studied the HNRNPK gene by Sanger sequencing, and identified a novel splicing variant. We suggest that Okamoto syndrome is identical to Au–Kline syndrome.

show abstract

“…A search for the combination of cleft palate and Noonan‐like features shows a rare condition named Okamoto syndrome which consists of multiple congenital anomalies, developmental delay, and characteristic facial features [Okamoto et al, 1997; Markouri et al, 2008; Taylor and Aftimos, 2010]. The condition was described in five patients, two of them of Caucasian origin.…”

Section: Discussionmentioning

confidence: 99%

Synthesis and swelling characteristics of responsive carboxybetaine gel

Tarannum

Singh

2011

J of Applied Polymer Sci

View full text Add to dashboard Cite

A polyimminium gel, Dimedone-[N, N 0 melaminium] butyrocarboxylate copolymer, comprising of zwitterionic carboxybetaine repeat units was synthesized via a catalyst free facile polycondensation approach. The polymer was studied for its photoluminescence, thermal, and swelling behavior. Swelling behavior was investigated in different solvent mixtures as well as in pure solvents. The extent of swelling was dictated by solvent composition, such as dielectric constant, pH, ionic strength, and other variables for instance, temperature and crosslinking density. Gel was soluble in alkali and could be regenerated on treatment with an acid. This pH responsive behavior could find various industrial applications, especially in wastewater treatment. A preliminary study on sorption of dyes was also carried out.

show abstract

A newborn with likely Okamoto syndrome

Cited by 4 publications

References 11 publications

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability

Okamoto syndrome has features overlapping with Au–Kline syndrome and is caused by HNRNPK mutation

Synthesis and swelling characteristics of responsive carboxybetaine gel

Contact Info

Product

Resources

About