Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

Table 1 Clinical features of individuals with nonphotosensitive trichothiodystrophy

Individuals	ED168				ED210		ED241
Individuals	IV-1	IV-2	IV-4	IV-6	IV-3	IV-4	IV-1	IV-2	IV-5
Gender	Female	Male	Male	Male	Female	Male	Male	Male	Female
Age (years)	38	35	27	23	17	8	25	15	12
Height	5′4″	5′8″	5′6″	5′6″	4′9″	3′4″^a	5′7″	5′1″	4′5″^a
Gestation	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
Hair features
-Brittle hair	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
-Dystrophic shaft	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
-Hair growth	Slow	Slow	Slow	Slow	Slow	Slow	Slow	Slow	Slow
-Diffuse hair fall	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Eyebrows	Sparse	Sparse	Sparse	Sparse	Sparse	Sparse	Sparse	Absent	Absent
Eyelashes	Sparse	Sparse	Sparse	Sparse	Sparse	Sparse	Sparse	Absent	Absent
Beard	-	Less dense	Less dense	Less dense	-	-	Less dense	-	-
Aged appearance	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Intellectual disability	Mild	Mild	Mild	Mild	Mild	Mild	Mild	Mild	Mild
Speech	Slurred	Slurred	Slurred	Slurred	Slurred	Slurred	Slurred	Slurred	Slurred
Epilepsy	No	Yes	No	No	No	No	No	No	No
Ocular features
-Blurred vision	Yes	Yes	No	No	Yes	Yes	Yes	Yes	Yes
-Corneal bulging	Yes	Yes	No	No	No	No	No	No	No
-Corneal opacity	No	Yes	No	No	No	No	No	No	No
Recurrent rhinosinusitis	Severe	Severe	Mild	Mild	Mild	Mild	Mild	Mild	Mild
High-arched Palate	Yes	?	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Teeth	Normal	Normal	Irregular, Hypodontia	Normal	Normal	Irregular, Hypodontia	Irregular	Normal	Normal
Skeletal structure	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
Ichthyosis	No	No	No	No	No	No	No	No	No
UV sensitivity	No	No	No	No	No	No	No	No	No
Nails	Normal	Grooved	Grooved	Normal	Thick	Normal	Dystrophic	Dystrophic	Dystrophic
Mitral regurgitation	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes

^aHeight for these two children fall below 1–2 standard deviations from the mean for Pakistani children of similar age

ISSN: 1471-2350