A boy with developmental delay, malformations, and evidence of a connective tissue disorder?possibly a new type of cutis laxa

2003 ◽  
Vol 119A (1) ◽  
pp. 57-62 ◽  
Author(s):  
Linlea Armstrong ◽  
Carmencita Jimenez ◽  
Alasdair G.W. Hunter
Keyword(s):  
Connective Tissue ◽  
Developmental Delay ◽  
Connective Tissue Disorder ◽  
Cutis Laxa ◽  
New Type

TAB2 variants cause cardiovascular heart disease, connective tissue disorder and developmental delay

2021 ◽  
Author(s):  
Jennifer Hanson ◽  
Daniel Brezavar ◽  
Susan Hughes ◽  
Shivarajan Amudhavalli ◽  
Emily Fleming ◽  
...  
Keyword(s):  
Heart Disease ◽  
Connective Tissue ◽  
Developmental Delay ◽  
Connective Tissue Disorder ◽  
Cardiovascular Heart Disease

scholarly journals Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 510
Author(s):  
Maxim Verlee ◽  
Aude Beyens ◽  
Alper Gezdirici ◽  
Elif Yilmaz Gulec ◽  
Lore Pottie ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Connective Tissue ◽  
Connective Tissue Disorder ◽  
Heterogeneous Group ◽  
Cutis Laxa ◽  
Loss Of Function ◽  
Pathogenic Variants ◽  
Genes Encoding ◽  
Hereditary Disorders ◽  
Musculoskeletal Systems

Hereditary disorders of connective tissue (HDCT) compromise a heterogeneous group of diseases caused by pathogenic variants in genes encoding different components of the extracellular matrix and characterized by pleiotropic manifestations, mainly affecting the cutaneous, cardiovascular, and musculoskeletal systems. We report the case of a 9-year-old boy with a discernible connective tissue disorder characterized by cutis laxa (CL) and multiple herniations and caused by biallelic loss-of-function variants in EFEMP1. Hence, we identified EFEMP1 as a novel disease-causing gene in the CL spectrum, differentiating it from other HDCT.

scholarly journals Anaesthetic Management in a Child with Cutis Laxa for Bilateral Ureteric Reimplantation

2021 ◽  
Author(s):  
Haripriya Ramachandran ◽  
Dammaningala Venkataramaiah Bhagya
Keyword(s):  
Heart Failure ◽  
Connective Tissue ◽  
Pulmonary Emphysema ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Preoperative Evaluation ◽  
Anaesthetic Management ◽  
Connective Tissue Disorder ◽  
Cutis Laxa ◽  
Facial Features

Cutis laxa is a rare congenital multisystem connective tissue disorder. Patients with cutis laxa can present with distinctive facial features, pulmonary emphysema and right-sided heart failure. Anaesthetic management is important because of difficult airway and respiratory/cardiac abnormalities. We have reported the preoperative evaluation and anaesthetic management of a child with Cutis laxa with right cleft lip and palate.

scholarly journals Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

2010 ◽  
Vol 47 (10) ◽  
pp. 717-720 ◽  
Author(s):  
H. Van Esch ◽  
E. M. Rosser ◽  
S. Janssens ◽  
I. Van Ingelghem ◽  
B. Loeys ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Developmental Delay ◽  
Connective Tissue Disorder

scholarly journals Anaesthetic Considerations in Patients with Cutis Laxa: Our Experience

2019 ◽  
Vol 4 (05) ◽  
Author(s):  
Dr Sheetal K. ◽  
Dr Nandini R. ◽  
Dr Chandrika Y. R.
Keyword(s):  
Connective Tissue ◽  
Growth Retardation ◽  
Connective Tissue Disorder ◽  
Temperature Monitoring ◽  
Cutis Laxa ◽  
Skeletal Involvement ◽  
Type Iii ◽  
Cardiovascular Involvement ◽  
Peripheral Temperature

Cutis laxa is a rare, inherited or acquired connective tissue disorder. It is characterized by loose, inelastic skin and various systemic involvements. Cutis laxa type III, described as de Barsy syndrome presents with ophthalmic opacification, skeletal involvement, cardiovascular involvement, mental and growth retardation. Intraoperative hyperthermia of the non-malignant variety with tachycardia is seen in 10% cases of cutis laxa type III. Given the rarity of cutis laxa syndrome, all cases require core and peripheral temperature monitoring.

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