Table 1. Open in new tab Clinical...

Subject

Sex and Age, y

CAH Phenotype

Hypermobility Score^a

Other Joint Findings

Skin Findings

Cardiac Findings

Additional Clinical Features

Family 1: II-2

M/18

Multiple subluxations; hypermobile shoulders and feet; hip laxity; chronic arthralgia^b

Wide scars; striae; skin laxity

Normal

Elongated uvula with midline crease; strabismus; gastroesophageal reflux; hiatal hernia; irritable bowel syndrome; piezogenic papules; bunions; osteopenia

Family 1: I-1

M/49

Carrier

Hypermobile hands; chronic arthralgia

Skin laxity

Normal

Asthma; hypertension

Family 2: I-2

F/20

Chronic arthralgia

Normal

Scoliosis; gastroesophageal reflux; piezogenic papules

Family 2: II-1

F/45

Multiple subluxations; hypermobile shoulders; hip laxity; chronic arthralgia; chronic tendonitis of wrists and knees

Skin laxity

Normal

Umbilical hernia; piezogenic papules

Family 3: II-1

F/6

Hip laxity

Normal

Patent foramen ovale until age 4 y

None

Family 3: I-2

F/43

Carrier

Hip laxity; torn rotator cuff

Normal

None

Family 4: II-2

M/2

Hip laxity

Skin laxity; doughy skin

Atrial septal aneurysm with patent foramen ovale

Elongated uvula with midline crease; umbilical hernia

Family 4: I-1

M/44

Hypermobile hands

Wide scars; congenital third nipple

Mildly enlarged aortic root

Elongated uvula with midline crease; pectus excavatum; varicose veins; chronic plantar fasciitis; pes planus

Family 5: II-3

F/41

Shoulder subluxation and bursitis; chronic arthralgia

Striae; skin laxity

Normal

None

Family 5: I-1

M/72

Carrier

n/a

Hypermobile shoulders; hip laxity; two knee and left shoulder arthroplasties

Normal

Mild RV and LA enlargement; atrial septum aneurysm with patent foramen ovale

Osteoarthritis; spinal stenosis; prostate cancer; epilepsy

Family 6: I-2

F/40

Carrier

Torn anterior cruciate ligament

Normal

n/a

None

Family 6: II-1

F/13

Scoliosis

Normal

Mild partial fusion of the commissure between left and right aortic cusps; mildly dilated aortic root

Turner syndrome; chronic otitis media

Family 6: II-2

M/9

Hypermobile hands

Normal

Chronic urticarial; chronic abdominal pain

Family 7: I-2

F/45

Carrier

None

Striae

n/a

None

Family 7: II-2

F/17

Carrier

None

Striae; cystic acne

n/a

None

Family 7: II-3

F/10

Rib and elbow subluxations; hypermobile shoulders and hands; hip laxity

Striae

n/a

None

Table 1.

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Clinical Findings in Patients With CAH-X Due to the Novel TNXB Variant C4058W

Subject	Sex and Age, y	CAH Phenotype	Hypermobility Score^a	Other Joint Findings	Skin Findings	Cardiac Findings	Additional Clinical Features
Family 1: II-2	M/18	SV	4	Multiple subluxations; hypermobile shoulders and feet; hip laxity; chronic arthralgia^b	Wide scars; striae; skin laxity	Normal	Elongated uvula with midline crease; strabismus; gastroesophageal reflux; hiatal hernia; irritable bowel syndrome; piezogenic papules; bunions; osteopenia
Family 1: I-1	M/49	Carrier	3	Hypermobile hands; chronic arthralgia	Skin laxity	Normal	Asthma; hypertension
Family 2: I-2	F/20	NC	5	Chronic arthralgia	Normal	Normal	Scoliosis; gastroesophageal reflux; piezogenic papules
Family 2: II-1	F/45	NC	7	Multiple subluxations; hypermobile shoulders; hip laxity; chronic arthralgia; chronic tendonitis of wrists and knees	Skin laxity	Normal	Umbilical hernia; piezogenic papules
Family 3: II-1	F/6	SW	8	Hip laxity	Normal	Patent foramen ovale until age 4 y	None
Family 3: I-2	F/43	Carrier	1	Hip laxity; torn rotator cuff	Normal	Normal	None
Family 4: II-2	M/2	SW	9	Hip laxity	Skin laxity; doughy skin	Atrial septal aneurysm with patent foramen ovale	Elongated uvula with midline crease; umbilical hernia
Family 4: I-1	M/44	NC	7	Hypermobile hands	Wide scars; congenital third nipple	Mildly enlarged aortic root	Elongated uvula with midline crease; pectus excavatum; varicose veins; chronic plantar fasciitis; pes planus
Family 5: II-3	F/41	SW	6	Shoulder subluxation and bursitis; chronic arthralgia	Striae; skin laxity	Normal	None
Family 5: I-1	M/72	Carrier	n/a	Hypermobile shoulders; hip laxity; two knee and left shoulder arthroplasties	Normal	Mild RV and LA enlargement; atrial septum aneurysm with patent foramen ovale	Osteoarthritis; spinal stenosis; prostate cancer; epilepsy
Family 6: I-2	F/40	Carrier	2	Torn anterior cruciate ligament	Normal	n/a	None
Family 6: II-1	F/13	SW	4	Scoliosis	Normal	Mild partial fusion of the commissure between left and right aortic cusps; mildly dilated aortic root	Turner syndrome; chronic otitis media
Family 6: II-2	M/9	SW	8	Hypermobile hands	Normal	Normal	Chronic urticarial; chronic abdominal pain
Family 7: I-2	F/45	Carrier	5	None	Striae	n/a	None
Family 7: II-2	F/17	Carrier	6	None	Striae; cystic acne	n/a	None
Family 7: II-3	F/10	NC	5	Rib and elbow subluxations; hypermobile shoulders and hands; hip laxity	Striae	n/a	None

Subject	Sex and Age, y	CAH Phenotype	Hypermobility Score^a	Other Joint Findings	Skin Findings	Cardiac Findings	Additional Clinical Features
Family 1: II-2	M/18	SV	4	Multiple subluxations; hypermobile shoulders and feet; hip laxity; chronic arthralgia^b	Wide scars; striae; skin laxity	Normal	Elongated uvula with midline crease; strabismus; gastroesophageal reflux; hiatal hernia; irritable bowel syndrome; piezogenic papules; bunions; osteopenia
Family 1: I-1	M/49	Carrier	3	Hypermobile hands; chronic arthralgia	Skin laxity	Normal	Asthma; hypertension
Family 2: I-2	F/20	NC	5	Chronic arthralgia	Normal	Normal	Scoliosis; gastroesophageal reflux; piezogenic papules
Family 2: II-1	F/45	NC	7	Multiple subluxations; hypermobile shoulders; hip laxity; chronic arthralgia; chronic tendonitis of wrists and knees	Skin laxity	Normal	Umbilical hernia; piezogenic papules
Family 3: II-1	F/6	SW	8	Hip laxity	Normal	Patent foramen ovale until age 4 y	None
Family 3: I-2	F/43	Carrier	1	Hip laxity; torn rotator cuff	Normal	Normal	None
Family 4: II-2	M/2	SW	9	Hip laxity	Skin laxity; doughy skin	Atrial septal aneurysm with patent foramen ovale	Elongated uvula with midline crease; umbilical hernia
Family 4: I-1	M/44	NC	7	Hypermobile hands	Wide scars; congenital third nipple	Mildly enlarged aortic root	Elongated uvula with midline crease; pectus excavatum; varicose veins; chronic plantar fasciitis; pes planus
Family 5: II-3	F/41	SW	6	Shoulder subluxation and bursitis; chronic arthralgia	Striae; skin laxity	Normal	None
Family 5: I-1	M/72	Carrier	n/a	Hypermobile shoulders; hip laxity; two knee and left shoulder arthroplasties	Normal	Mild RV and LA enlargement; atrial septum aneurysm with patent foramen ovale	Osteoarthritis; spinal stenosis; prostate cancer; epilepsy
Family 6: I-2	F/40	Carrier	2	Torn anterior cruciate ligament	Normal	n/a	None
Family 6: II-1	F/13	SW	4	Scoliosis	Normal	Mild partial fusion of the commissure between left and right aortic cusps; mildly dilated aortic root	Turner syndrome; chronic otitis media
Family 6: II-2	M/9	SW	8	Hypermobile hands	Normal	Normal	Chronic urticarial; chronic abdominal pain
Family 7: I-2	F/45	Carrier	5	None	Striae	n/a	None
Family 7: II-2	F/17	Carrier	6	None	Striae; cystic acne	n/a	None
Family 7: II-3	F/10	NC	5	Rib and elbow subluxations; hypermobile shoulders and hands; hip laxity	Striae	n/a	None

Abbreviations: LA, left atrium; LV, left ventricle; n/a, not available; NC, nonclassic; RA, right atrium; RV, right ventricle; SV, classic simple virilizing; SW, classic salt wasting.

Hypermobility score was assessed by the Beighton scale (19).

Arthralgia is at least 3 months' duration.

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