Table 3 Phenotypic description of the patients. “Cardio” indicates any structural abnormality of the heart, such as septal defects or cardiomegaly. “Neuro” includes any neurological abnormality on physical examination, such as hypotonia. “Skeletal” includes any bone or joints alterations (including arachnodactyly) apart from spine involvement, which is reported as “spine”. Head includes dysmorphic features of the patient’s face, with the exclusion of micrognathia (“micrognathia”) and cleft palate (“uvula/palate”)
From: Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature
Author | Aorta | Pulmonary | Tortuosity | Cardio | Skeletal | Eyes | Head | Uvula/Palate | Micrognathia | Spine | Hernias | Feet | Neuro |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Choo JTL et al | Yes | Yes | / | Yes | Yes | Yes | Yes | Yes | Yes | / | / | / | Yes |
Ilyn VN et al | Yes | / | Yes | Yes | / | Yes | / | Yes | / | / | / | / | / |
Muramatsu Y et al | Yes | Yes | Yes | Yes | Yes | Yes | / | Yes | Yes | / | Yes | Yes | Yes |
Kuppler KM et al | Yes | Yes | / | / | Yes | Yes | / | Yes | / | / | / | Yes | / |
Wisniewski K et al | Yes | Yes | Yes | Yes | Yes | Yes | / | Yes | Yes | / | Yes | / | / |
Valenzuela I et al | Yes | / | Yes | / | Yes | Yes | / | Yes | / | / | Yes | Yes | / |
Ozawa H et al | Yes | Yes | Yes | Yes | Yes | / | / | Yes | / | / | / | / | / |
Viassolo V et al | Yes | / | / | / | Yes | Yes | Yes | Yes | Yes | / | / | Yes | / |
Yetman AT et al. [1] | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | / | Yes | Yes | Yes | Yes |
Yetman AT et al. [2] | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | / | Yes | Yes | Yes | Yes |
Yetman AT et al. [3] | Yes | / | Yes | / | Yes | Yes | Yes | Yes | / | Yes | Yes | Yes | Yes |
Yetman AT et al. [4] | Yes | Yes | Yes | Yes | Yes | Yes | Yes | / | Yes | Yes | Yes | Yes | |
Yetman AT et al. [5] | Yes | / | / | / | Yes | Yes | Yes | Yes | / | Yes | Yes | Yes | Yes |
Chung BHY et al | Yes | Yes | Yes | / | Yes | / | / | / | Yes | Yes | Yes | Yes | / |
Patient 1 | Yes | / | / | Yes | Yes | Yes | Yes | / | Yes | / | / | / | Yes |
Patient 2 | / | / | / | / | Yes | Yes | Yes | Yes | Yes | / | / | / | / |