Table 3.

Clinical Findings in 7 Parents With CAH Carriership and TNXB Haploinsufficiency

Patient No.	Sex and Age, y	Hypermobility Scorea	Other Joint Symptoms	Skin Findings	Additional Clinical Features
Mother of patient 1	F/30	6	Hypermobile fingers; shoulder subluxation	Easy bruising	Pes planus
Mother of patient 2	F/44	7	Hypermobile fingers	Normal	Redundant anterior mitral leaflet and mitral prolapse; urethral prolapse at age 10 y; hiatus hernia; gastroesophageal reflux
Father of patient 3	M/48	0	Hypermobile in childhood; chronic arthralgia; chronic back pain	Normal	Varicose veins
Mother of patient 4	F/41	5	Hypermobile fingers; hip laxity; chronic back pain	Easy bruising
Mother of patient 5	F/54	0	None	Normal
Father of patient 9	M/55	0	Chronic elbow pain	Eczema	Dilated aortic root (43 mm); RV and RA enlargement; LA enlargement; pectus excavatum; lumbar spondylosis at age 39 y; gastroesophageal reflux; plantar fasciitis; wrist tendonitis
Mother of patient 10	F/54	0	None	Normal

Abbreviations: M, male; F, female; RV, right ventricle; RA, right atrium; LA, left atrium.

^aHypermobility score was assessed by the Beighton scale (9).