Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

Table 1 Comparison of the clinical and genetic features in both 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)

GI gastrointestinal, CNS central nervous system, US ultrasound, aCGH array comparative genomic hybridization

ISSN: 1824-7288