Table 1 Comparison of the clinical and genetic features in both patients
From: Jacobsen syndrome and neonatal bleeding: report on two unrelated patients
Patient 1 | Patient 2 | |
|---|---|---|
Physical growth delay | ||
Prenatal | yes | Yes |
Postnatal | yes | No |
Developmental delay | yes | Yes |
Feeding difficulties | yes | Yes |
Craniofacial abnormalities | ||
Skull deformities | brachycephaly | turricephaly |
High prominent forehead | yes | Yes |
Ears | ||
Small ears | no | Yes |
Low set ears | no | Yes |
Posteriorly rotated ears | yes | Yes |
Hypoplastic antihelix | no | Yes |
Eyes | ||
Ocular hypertelorism | yes | Yes |
Down slanting palpebral fissures | no | Yes |
Divergent strabismus | yes | No |
Palpebral ptosis | no | No |
Epicanthal folds | no | Yes |
Iris coloboma | no | no (thinned iris) |
Nose | ||
Broad nasal bridge | yes | Yes |
Flat nasal bridge | yes | No |
Anteverted nares | yes | No |
Prominent columella | yes | No |
Mouth | ||
Long philtrum | yes | No |
Hypoplastic philtrum | yes | No |
V-shaped mouth | yes | Yes |
Thin upper lip | yes | No |
Retrognathia | yes | No |
Cleft palate | yes | No |
Hands | ||
Fifth finger clinodactily | yes | Yes |
Enlarged and adducted thumbs | yes | No |
Feet | ||
Crowded toes | yes | No |
Pes equinus varus | yes | No |
Malformations of the heart | atrial septal defect | no |
Kidneys | hydronephrosis | No |
GI tract | no | No |
Genitalia | no | No |
Skeleton | no | No |
CNS | no | No |
Cerebral US abnormalities | no | Encephalomalacia |
Hearing loss | bilateral mild conductive hypoacusis | No |
Immunological defects | no | lymphocytopenia and hypogammaglobulinemia |
Hematological disorders | thrombocytopenia and anemia | Pancytopenia |
Hormonal defects | no | No |
Genetic test result (aCGH) | 11q24.1-q25 deletion(12.5 Mb, position 122,293,668 to 134,868,407) | 11q24.1-q25 deletion(11 Mb, position 123,414,350 to 134,868,420)10p15.3p13 duplication (15 Mb, position 136,145 to 15,415,339) |