Unusual presentation of Loeys-Dietz syndrome: A case report of clinical findings and treatment challenges

Table 1 Loeys-Dietz Syndrome classification and clinical signs

LDS type	Gene symbol	Location	Gene/locus MIM number	Clinical signs	Other syndromes related
LDS 1	TGFBR1	9q22.33	190181	-Micrognathia	-TAAD (previously LDS1a, 1b, 2a, 2b)
				-Hypertelorism
				-Exotropia
				-Blue sclerae
				-Arterial tortuosity, generalized
				-Patent ductus arteriosus
				-Ascending aortic aneurysm
				-Ascending aortic dissection
				-Pulmonary artery aneurysm
				-Bifid uvula
				-Malar hypoplasia
				-Joint laxity
				-Translucent skin
LDS 2	TGFBR2	3p24.1	190182	-Micrognathia	-TAAD
				-Hypertelorism	-MFS2 (previously LDS 1a, 1b, 2a, 2b)
				-Exotropia
				-Blue sclerae
				-Proptosis
				-Hypertelorism
				-Bifid uvula
				-Arterial tortuosity
				-Pectus deformity
				-Malar hypoplasia
				-Brachydactyly
				-Patent ductus arteriosus
				-Ascending aortic aneurysm and dissection
				-Pulmonary artery aneurysm
LDS 3	SMAD3	15q22.33	603109	-Aneurysms-osteoarthritis syndrome	---
				-High-arched palate
				-Mitral valve prolapse and regurgitation
				-Aortic insufficiency
				-Left ventricular hypertrophy
				-Atrial fibrillation
				-Intervertebral disc degeneration
				-Dural ectasia
				-Spondylysis
				-Camptodactyly
				-Uncovertebral (C3-C7) joint osteoarthritis
LDS 4	TGFB2	1q41	190220	-Retrognathia	---
				-High-arched palate
				-Hypertelorism
				-Mitral valve prolapse
				-Aortic root aneurysm
				-Aortic dissection
				-Arterial tortuosity
				-Cerebrovascular aneurysm
				-Fusiform dilation and tortuosity of cerebrovascular arteries
				-Pectus deformity
				-Inguinal hernia
				-Flat feet
LDS 5	TGFB3	14q24.3	190230	-Tall stature	----
				-Retrognathia, mild
				-Long face
				-Blue sclerae
				-Downslanting palpebral fissures
				-Bifid uvula
				-Cleft palate
				-Mitral insufficiency
				-Aortic root dilation
				-Aneurysm of thoracic aorta
				-Aneurysm of abdominal aorta
				-Aneurysmal dissection or rupture
				-Elastic fiber fragmentation in aneurysmal aortic wall
				-Pectus excavatum
				-Pectus carinatum
				-Hiatal hernia
				-Kyphoscoliosis
LDS 6	SMAD2	18q21.1	601366	-Tall stature	---
				-Dolichocephaly
				-Midface hypoplasia
				-Retrognathia
				-Hypertelorism
				-Downslanting palpebral fissures
				-High-arched palate
				-Broad uvula
				-Any cardiac valve prolapse or insufficiency
				-Thoracic aortic aneurysm
				-Tortuosity of aorta
				-Arterial tortuosity and aneurysms
				-Pectus deformity
				-Diaphragmatic hernia
				-Diverticulosis
				-Dolichocephaly
				-Positive wrist and thumb sign
				-Genu valgum
				-Easy bruising
				-Varicose veins
				-Migraine

LDS: Loeys-Dietz Syndrome; MFS2: Marfan syndrome type 2; TAAD: Thoracic aortic aneurysm and dissection; TGFBR: Transforming growth factor-B receptor; SMAD3: Small mother against decapentaplegic family member-2 gene.