Table 14

Dysmorphology findings

DysmorphologyFrequencyReference
*High, narrow skull, scaphocephaly, dolichocephaly, brachycephaly, flat occiput.
Potter facies3 (2.6%) 19, 34, 44
Facial asymmetry6 (5.1%)3,13,15 (two cases),36,69
Abnormalities of skull shape*5 (4.3%)4,16 (two cases),40,56
Sloping forehead4 (3.4%)17,50 (two cases),51
Prominent, protuberant, and/or broad forehead5 (4.3%)4,14,16 (two cases),51
Low posterior hairline3 (2.6%) 12, 33, 37
Hypertelorism or pseudohypertelorism25 (21.4%)9,14,16 (two cases),18,21,28 (two cases),33,37,38,40,45 (two cases),49,50 (two cases),51,56,62 (six cases)
Frenula or thick frenula, tongue tie, short frenula5 (4.3%) 8, 3, 4, 28, 56
Microstomia8 (6.8%)16,19 (three cases),37,40,43,51
Micrognathia11 (9.4%)4 (two cases),16,26 (two cases),44 (two cases),45,50 (two cases),51
Short neck with redundant skin and/or extra skin8 (6.8%)3,7,16 (two cases),33,50 (two cases),51
Widely spaced nipples5 (4.3%)3,38,52 (two cases)
Haemangioma4 (3.4%) 3, 8, 11, 48
Non-specific dysmorphism 27, 29
Hirsutism 19
Upward slanting palpebral fissures 37, 50
Upsweeping eyebrows 16
Epicanthic folds 45
Blepharophimosis 37, 45
Telecanthus 23, 49
Long philtrum 21, 50
Short philtrum 16, 32
Thin vermilion border to the lips, dowrnturned lips26 (two cases)
Thick lips 69
Fibrous band of buccal mucosa 69
Relative macrostomia and macroglossia 50
Hypoplastic nipples 45
Oculocutaneous albinism 68
Vitiligo 61