Biomaterial Database

[Asphyxiating thoracic dystrophy (author's transl)]. 1977

H J Brünger, and J Natzschka

Report on a 17 months old boy with the minor form of asphyxiating thoracic dystrophy. The clinical picture is characterized by a rigid, narrow, and extended thorax and by dyspnea and tendency to develop pneumonitis during early infancy. Later on there is gradual improvement by increase of the thoracic volume. At the age of 17 months there are no more radiographic pelvic deformities which the infant had initially. Up to now the boy shows no skeletal changes of the hands, and no symptoms of renal involvement frequently developing in this disease. Since the a. th. d. is inherited by an autosoma recessive gene, the recognition also of the minor forme is important for genetic counseling. The differentiation between the a. th. d. and the chondroektodermal dysplasia Ellis-van Crefeld is discussed.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D010388	Pelvis	The space or compartment surrounded by the pelvic girdle (bony pelvis). It is subdivided into the greater pelvis and LESSER PELVIS. The pelvic girdle is formed by the PELVIC BONES and SACRUM.	Pelvic Region,Region, Pelvic
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004476	Ectodermal Dysplasia	A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.	Anhidrotic Ectodermal Dysplasia,Aplasia Cutis Congenita,Clouston's Syndrome,Ectodermal Defect, Congenital,Hidrotic Ectodermal Dysplasia,Anhydrotic Ectodermal Dysplasia,Aplasia Cutis Congenita, Nonsyndromic,Autosomal Dominant Hidrotic Ectodermal Dysplasia,Clouston Hidrotic Ectodermal Dysplasia,Clouston Syndrome,Clouston's Hidrotic Ectodermal Dysplasia,Congenital Ectodermal Defect,Defect, Congenital Ectodermal,Ectodermal Dysplasia 2, Hidrotic,Ectodermal Dysplasia Anhidrotic,Ectodermal Dysplasia, Anhydrotic,Ectodermal Dysplasia, Hidrotic,Ectodermal Dysplasia, Hidrotic, Autosomal Dominant,Hidrotic Ectodermal Dysplasia, Autosomal Dominant,Hydrotic Ectodermal Dysplasia,Anhidrotic Ectodermal Dysplasias,Anhidrotic, Ectodermal Dysplasia,Anhidrotics, Ectodermal Dysplasia,Anhydrotic Ectodermal Dysplasias,Cloustons Syndrome,Congenital Ectodermal Defects,Defects, Congenital Ectodermal,Dysplasia Anhidrotic, Ectodermal,Dysplasia Anhidrotics, Ectodermal,Dysplasia, Anhidrotic Ectodermal,Dysplasia, Anhydrotic Ectodermal,Dysplasia, Ectodermal,Dysplasia, Hidrotic Ectodermal,Dysplasia, Hydrotic Ectodermal,Dysplasias, Anhidrotic Ectodermal,Dysplasias, Anhydrotic Ectodermal,Dysplasias, Ectodermal,Dysplasias, Hidrotic Ectodermal,Dysplasias, Hydrotic Ectodermal,Ectodermal Defects, Congenital,Ectodermal Dysplasia, Anhidrotic,Ectodermal Dysplasia, Hydrotic,Ectodermal Dysplasias,Ectodermal Dysplasias, Anhidrotic,Ectodermal Dysplasias, Anhydrotic,Ectodermal Dysplasias, Hydrotic,Hidrotic Ectodermal Dysplasias,Hydrotic Ectodermal Dysplasias,Syndrome, Clouston,Syndrome, Clouston's
D006225	Hand	The distal part of the arm beyond the wrist in humans and primates, that includes the palm, fingers, and thumb.	Hands
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001237	Asphyxia	A pathological condition caused by lack of oxygen, manifested in impending or actual cessation of life.	Suffocation,Asphyxias,Suffocations
D013902	Radiography, Thoracic	X-ray visualization of the chest and organs of the thoracic cavity. It is not restricted to visualization of the lungs.	Thoracic Radiography,Radiographies, Thoracic,Thoracic Radiographies
D013909	Thorax	The upper part of the trunk between the NECK and the ABDOMEN. It contains the chief organs of the circulatory and respiratory systems. (From Stedman, 25th ed)	Chest,Thoraces,Chests,Thorace