Powell Chandra Saal Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

PHAVER (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome, PHAVER SYNDROME, PHAVER syndrome

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Introduction

A very rare syndrome with the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. It has been described in two siblings. One of the siblings also had a myelomeningocele. The reported cases suggest the condition is hereditary with probable autosomal recessive inheritance.

100 Clinical Results associated with Powell Chandra Saal Syndrome

100 Translational Medicine associated with Powell Chandra Saal Syndrome

0 Patents (Medical) associated with Powell Chandra Saal Syndrome

Literatures (Medical) associated with Powell Chandra Saal Syndrome

01 Sep 2008·Taiwanese Journal of Obstetrics and GynecologyQ4 · MEDICINE

Syndromes, Disorders and Maternal Risk Factors Associated With Neural Tube Defects (VII)

Q4 · MEDICINE

ReviewOA

Author: Chen, Chih-Ping

Neural tube defects (NTDs) may be associated with syndromes, disorders and maternal risk factors. This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome), Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonci syndrome, maternal cocaine abuse, Weissenbacher- Zweymller syndrome, parietal foramina (cranium bifidum), Apert syndrome, craniomicromelic syndrome, XXagonadism with multiple dysraphic lesions including omphalocele and NTDs, Fryns microphthalmia syndrome, Gershoni-Baruch syndrome, PHAVER syndrome, periconceptional vitamin B6 deficiency, and autosomal dominant Dandy-Walker malformation with occipital cephalocele. NTDs associated with these syndromes, disorders and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders and maternal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling.

01 Nov 1993·American Journal of Medical Genetics

PHAVER syndrome: An autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects

Article

Author: Roma S. Chandra ; Howard M. Saal ; Cynthia M. Powell

AbstractWe have studied 2 sibs with vertebral, radial, congenital heart, and ear defects. The second patient also had limb pterygia and meningomyelocele. The abnormalities in these two sibs are seen in the VATER association; however, distinguishing these cases from the VATER association are the findings of pterygia, meningomyelocele, and probable autosomal recessive inheritance. We propose the acronym PHAVER syndrome for limb pterygia, heart defects, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. This represents an new autosomal recessive disorder with phenotypic variability. © 1993 Wiley‐Liss, Inc.

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Powell Chandra Saal Syndrome

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