The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss

We report the case of the third patient with Tsukahara-Azuno-Kaiji syndrome. It is characterized by brachydactyly A1, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss. The first patient was reported in 1989, and the second in 2010. The present patient had many fea...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autor principal:	Atsushi Murata, MD, PHD
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2022
Materias:	Tsukahara-Azuno-Kaiji syndrome Brachydactyly Dwarfism Microcephaly Scoliosis Intellectual disability Medical physics. Medical radiology. Nuclear medicine R895-920
Acceso en línea:	https://doaj.org/article/41cf93a06e5843c79e6320e3ba57c26b
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:41cf93a06e5843c79e6320e3ba57c26b
record_format	dspace
spelling	oai:doaj.org-article:41cf93a06e5843c79e6320e3ba57c26b2021-11-30T04:15:09ZThe third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss1930-043310.1016/j.radcr.2021.10.020https://doaj.org/article/41cf93a06e5843c79e6320e3ba57c26b2022-01-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1930043321007317https://doaj.org/toc/1930-0433We report the case of the third patient with Tsukahara-Azuno-Kaiji syndrome. It is characterized by brachydactyly A1, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss. The first patient was reported in 1989, and the second in 2010. The present patient had many features in common with the previous 2 patients, with a few minor differences. Although this combination of symptoms is very characteristic, the clinicians should know about this syndrome to diagnose it. The syndrome in this patient appeared sporadically, and chromosome G-banding revealed a normal female karyotype of 46XX. However, further genetic research could not be performed. Steady accumulation of information will enable us to discover the true clinical and genetic nature of the disease and to make the diagnosis more easily.Atsushi Murata, MD, PHDElsevierarticleTsukahara-Azuno-Kaiji syndromeBrachydactylyDwarfismMicrocephalyScoliosisIntellectual disabilityMedical physics. Medical radiology. Nuclear medicineR895-920ENRadiology Case Reports, Vol 17, Iss 1, Pp 181-184 (2022)
institution	DOAJ
collection	DOAJ
language	EN
topic	Tsukahara-Azuno-Kaiji syndrome Brachydactyly Dwarfism Microcephaly Scoliosis Intellectual disability Medical physics. Medical radiology. Nuclear medicine R895-920
spellingShingle	Tsukahara-Azuno-Kaiji syndrome Brachydactyly Dwarfism Microcephaly Scoliosis Intellectual disability Medical physics. Medical radiology. Nuclear medicine R895-920 Atsushi Murata, MD, PHD The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss
description	We report the case of the third patient with Tsukahara-Azuno-Kaiji syndrome. It is characterized by brachydactyly A1, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss. The first patient was reported in 1989, and the second in 2010. The present patient had many features in common with the previous 2 patients, with a few minor differences. Although this combination of symptoms is very characteristic, the clinicians should know about this syndrome to diagnose it. The syndrome in this patient appeared sporadically, and chromosome G-banding revealed a normal female karyotype of 46XX. However, further genetic research could not be performed. Steady accumulation of information will enable us to discover the true clinical and genetic nature of the disease and to make the diagnosis more easily.
format	article
author	Atsushi Murata, MD, PHD
author_facet	Atsushi Murata, MD, PHD
author_sort	Atsushi Murata, MD, PHD
title	The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss
title_short	The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss
title_full	The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss
title_fullStr	The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss
title_full_unstemmed	The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss
title_sort	third patient with tsukahara-azuno-kaiji syndrome with type a1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss
publisher	Elsevier
publishDate	2022
url	https://doaj.org/article/41cf93a06e5843c79e6320e3ba57c26b
work_keys_str_mv	AT atsushimuratamdphd thethirdpatientwithtsukaharaazunokaijisyndromewithtypea1brachydactylydwarfismmicrocephalyscoliosisintellectualdisabilityptosisandhearingloss AT atsushimuratamdphd thirdpatientwithtsukaharaazunokaijisyndromewithtypea1brachydactylydwarfismmicrocephalyscoliosisintellectualdisabilityptosisandhearingloss
_version_	1718406798124253184

The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss

Ejemplares similares