Table 1 Genetic and clinical features of the patients included in this study and previous reports
From: HOXA genes cluster: clinical implications of the smallest deletion
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | |
|---|---|---|---|---|---|---|---|---|
Present case 3y, female | Devriendt et al., 1999 [ 5 ] 21y, male | Dunø et al., 2004 [ 6 ] 5y, female | Dunø et al., 2004 [ 6 ] 4y, male | Kosaki et al., 2005 [ 7 ] 1y, male | Jun et al., 2011 [ 3 ] 4y, male | Hosoki et al., 2012 [ 4 ] 13y, male | Fryssira et al., 2011 [ 8 ] 2y, male | |
Chromosomal deletion | 7p15.2p14.3 | 7p15.3p14.2 | 7p15.3p14.3 | 7p15.2p14.2 | 7p15.2p21 | 7p15.3p15.1 | 7p15.3p15.1 | 7p21.1p14.3 |
Size (Mb) | 2.5 | 12 | 9,8 | 9 | NA | 5,6 | 6,9 | 13 |
Inheritance | De novo | De novo | De novo | De novo | De novo | De novo | De novo | De novo |
Neonatal feeding problem | Yes, due to GERD | Yes, due to velopharingeal insufficiency | NA | NA | NA | Yes, due to dysphagia | Yes | Yes, due to GERD |
Developmental delay | Yes | No | Yes | Yes | Yes | Yes | Yes | Yes |
Intellectual disability | No | Borderline IQ | Yes | Yes | Yes | Yes | No | Yes |
Speech delay | Yes | No | Yes | Yes | Yes | Yes | Yes | Yes |
Ear anomalies | Uplift of ear lobules, hyperplastic anti-helix | Low-set, malformed | NA | Short, slightly deformed | Prominent ear crus | Low-set, posterior angulated, mild EAM stenosis | Low-set, posterior rotated | Low-set, Helix hypoplasia, hyperplastic anti-helix and anti-tragus, prominent intertragic notch |
Palpebral fissures | Short | Upslanted | Upslanted | Dowslanted | NA | Upslanted | No | Short, epicanthic folds, ptosis |
Other facial anomalies | Frontal bossing, mild hypertelorism, wide nasal bridge, long philtrum, thin lips, micrognathia, short neck | Retrognathia, upturned nostrils, large mouth | Flat nasal bridge, broad nose, anteverted nostrils, broad lips | Broad neck | Depressed supraorbital ridge on the left, maxillary hypoplasia | Flat nasal bridge, frontal bossing | Bifrontal narrowing | Asymmetry, hypertelorism, low nasal bridge, anteverted nostrils, long and smooth philtrum, short neck |
Small hands and feet | Small feet | NA | Yes | Yes | No | Yes | Yes | Yes |
Clinodactyly | No | Yes | Yes | Yes | No | No | Yes | Yes |
Other fingers anomalies | Hypoplasia of distal phalanges of thumbs and 2nd fingers | Pointed distal phalanx | Short fingers | Short fingers | Hypoplasia of 5th fingers | Limited extension | No | Digital webbing and abnormal hand creases |
Great toe anomalies | No | Shortened, laterally deviated | Short and broad | NA | No | Hypoplasia | Curved and broad | Relatively long, broad and medially deviated |
Other toes anomalies | Short toes | Triangular distal phalanx | NA | Short toes, pes planus | No | No | Short | Short |
Genital anomalies | No | Cryptorchidism, ventral-bowed penis | NA | No | Rectoperineal fistula | Hypospadia | No | Hypospadia, left cryptorchidism and scrotum hypoplasia |
Urinary anomalies | Bifid pelvis with left VUR | No | No | No | No | No | No | Moderate renal insufficiency |
Velopharyn-geal anomalies | No | Yes | No | No | No | No | No | Yes |
Heart malformations | No, only bradycardia and sporadic supraventricular extrasystoles | Patent ductus Botalli | No | No | Patent ductus arteriosus | Patent ductus arteriosus, partial pulmonary venous return | No | Open foramen ovale, aortic insufficiency |
Other features | Desaturation episodes, GERD, stridor | No | No | Hypermetropia | Anal atresia, cranio-synostosis | Accessory nipples | No | Craniosynostosis, desaturation episodes (abnormal sleep EEG) |