Table 6. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Constitutional	Assess nutritional status, growth.
Musculoskeletal	Orthopedics: joint contractures, bowed long bones; kyphoscoliosis	Kyphoscoliosis is congenital, progressive, & warrants early eval.
Assessment by physiatrist, OT/PT of fine motor & gross motor skills related to contractures & muscular hypotonia
Cardiovascular	Assess for congenital heart disease.	Commonly atrial or ventricular septal defect, interrupted aortic arch; rarely aortic root dilatation. Valvular insufficiency may occur.
Gastrointestinal/ Feeding	Assess for GI malformation: a "double bubble" sign on abdominal ultrasound is indicative of a duodenal atresia/obstruction.	Duodenal or esophageal atresia & intestinal malrotation
Respiratory	Assess for respiratory insufficiency.	Most common cause of death, often resulting from tracheomalacia (due to pressure from vascular anomalies) & respiratory infections. It is unclear if hypotonia, emphysema, &/or left-sided congestive heart failure may contribute to the respiratory problems.
Ophthalmologic	Flat cornea / keratoconus	Low risk
Miscellaneous/ Other	Consultation w/clinical geneticist &/or genetic counselor

System/Concern

Evaluation

Comment

Constitutional

Assess nutritional status, growth.

Musculoskeletal

Orthopedics: joint contractures, bowed long bones; kyphoscoliosis

Kyphoscoliosis is congenital, progressive, & warrants early eval.

Assessment by physiatrist, OT/PT of fine motor & gross motor skills related to contractures & muscular hypotonia

Cardiovascular

Assess for congenital heart disease.

Commonly atrial or ventricular septal defect, interrupted aortic arch; rarely aortic root dilatation. Valvular insufficiency may occur.

Gastrointestinal/
Feeding

Assess for GI malformation: a "double bubble" sign on abdominal ultrasound is indicative of a duodenal atresia/obstruction.

Duodenal or esophageal atresia & intestinal malrotation

Respiratory

Assess for respiratory insufficiency.

Most common cause of death, often resulting from tracheomalacia (due to pressure from vascular anomalies) & respiratory infections. It is unclear if hypotonia, emphysema, &/or left-sided congestive heart failure may contribute to the respiratory problems.

Ophthalmologic

Flat cornea / keratoconus

Low risk

Miscellaneous/
Other

Consultation w/clinical geneticist &/or genetic counselor

From: Congenital Contractural Arachnodactyly

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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