Table 1 Clinical features of patients with deletion including 7p15 region and point mutations in HOXA13
Patients with microdeletion in 7p15 region | Patients with point mutations in HOXA13 | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Patient 1 Present case | Patient 2 [9] (Devriendt et al., 1999)c | Patient 3 [18] (Dunø et al., 2004)b | Patient 4 [18] (Dunø et al., 2004)b | Patient 5 [19] (Kosaki et al., 2005) c | Patient 6 [20] (Jun et al., 2011) | Patient 7 [21] (Fryssira et al., 2011) | Patient 8 [17] (Hosoki et al., 2012) | Patient 9 [16] (Pezzani et al., 2016) | Patient A [2] (Mortlock & Innis, 1997) | Patient B [3] (Goodman et al., 2000) | Patient C [10] (Parker et al., 2011) | Patient D [12] (Imagawa et al., 2014) | |
Chromosomal region (size) or mutation in HOXA13 gene | 7p14.3p15.3 (12.7 Mb) | 7p14.2p15.3 (?) | 7p14.3p15.3 (9.8 Mb) case 1 | 7p14.2p15.2 (9.0 Mb) case 2 | 7p15.2p21 (?) | 7p15.1p15.3 (5.6 Mb) | 7p14.3p21.1 (13 Mb) | 7p15.1p15.3 (6.9 Mb) | 7p14.3p15.2 (2.5 Mb) | p.Trp369Ter | p.Asn372His | p.Arg326Gly | p.Ile368Phe |
Neurodevelopmental delay | + | Borderline | + | + | + | + | + | + | + | – | – | – | – |
Height | Short stature | Normal | Normal at birth | Normal at birth | NR | Low weight at birth, short stature with relative macrocephaly | Low weight, short stature, and low cephalic perimeter | Postnatal short stature | Short stature with relative macrocephaly | NR | NR | Normal | Normal |
Frontal bossing | + | NA | NA | NA | NA | + | – | – | + | – | – | – | – |
Depressed nasal bridge | + | NA | + | – | + a | + a | + | + | + | – | – | – | – |
Mild hypertelorism | + | NA | + a | - a | + a | NA | + | – | + | – | – | – | – |
Long philtrum | + | NA | + a | + a | + a | NA | + | – | + | – | – | – | – |
Ear anomalies | Posteriorly rotated and dysplastic | Low-set and malformed | ND | Small and dysplastic | Prominent crus hélix | Posteriorly rotated, low-set, external auditory canal stenosis | Low-set, hypoplastic helix, prominent antihelix and antitragus | Posteriorly rotated, dysplastic, and low-set | Prominent antihelix, upslanted lobule | – | – | – | – |
Hand anomalies | Small, bilateral fifth finger clinodactyly | Small, bilateral fifth finger clinodactyly, short distal phalange of second finger | Small, right fourth finger clinodactyly | Small, bilateral fifth finger clinodactyly | Bilateral fifth finger hypoplasia, with single crease on left side | Small, hypoplastic thumb, extension limitation of thumbs, second and third fingers, nail dysplasia, abnormal creases | Small, mesomelic shortening and fifth finger hypoplasia with bilateral clinodactyly, abnormal creases | Small, bilateral fifth finger clinodactyly, small distal phalanges | Smalla, Thumb and second finger distal phalanges hypoplasia, conic fingers | Small, thenar hypoplasia, abnormal left thumb, right fifth finger clinodactyly, left palmar transverse crease | Smalla, hypoplastic thumbs, bilateral fifth finger clinodactyly | Hypoplastic thumbs with proximal insertion, fifth finger clinodactyly | Smalla hypoplastic thumbs, importantly affected distal phalanges |
Feet anomalies | Severe hallux valgus | Hypoplastic thumb, laterally deviated | Small and broad thumb | Small thumb, pes planus | NA | Small feet, thumb hypoplasia, nail dysplasia, abnormal creases | Brachydactyly of toes II–IV with a long and broad hallux, medially deviated | Hallux valgus, short and broad thumb | Small feet and short toes | Small feet, right foot smaller than left foot, bilateral abnormal and small thumbs | Absent thumb | Hallux valgus | Absent thumbs, distal phalanges affected |
Genital anomalies | Cryptorchidism, hypospadias | Cryptorchidism, ventral-bowed penis | NA | – | Rectoperineal fistula | Hypospadias | Hypospadias left cryptorchidism and scrotum hypoplasia | – | – | – | Hypospadias | Double uterus and cérvix | Bicornis hypoplastic uterus |
Other dismorphias | Facial asymmetry strabism, thin upper lip | Anteverted nares, retrognathia, wide mouth, short uvula, short soft palate | Anteverted nares, broad lips, upslanted palpebral fissures, broad nose | Broad neck, upslanted short palpebral fissures | Depressed supraorbital ridge on the left, maxillary hypoplasia, craniosynostosis, anal atresia | Accessory nipples | Craniosynostosis, short palpebral fissures, epicanthus, ptosis, anteverted nostrils, micrognathiaa, high palate and soft-palate cleft, short neck, widely spaced nipples | Bifrontal narrowing | Thin lips, micrognathia, short neck | – | – | – | – |