Table 1.
Clinical features of patients with constitutional ring 1 chromosome syndrome
| Present case | Gordon and Cooke 6 | Wolf et al. 7 | Bobrow et al. 3 | Kjessler et al. 1 | Gardner et al. 5 | Cutenese et al. 4 | |
|---|---|---|---|---|---|---|---|
| 46,XY, r(1)(p36.3q44) | 46,XX, r(1) | 46,XX, r(1) | 46,XX, r(1) | 46,XX, r(1) | 46,XX, r(1) | 46,XX, r(1)(p36.3q44) | |
| Birth parameters | BW: 1.90 kg | BW: 1.64 kg | BW: 1.08 kg | BW: 1.80 kg | BW: 1.69 kg | BW: 1.48 kg | BW: 1.67 kg |
| BL: 40.5 cm | BL: N/A | BL: N/A | BL: N/A | BL: 39 cm | BL: 42 cm | BL: 41 cm | |
| OFC: 28 cm | OFC: 28.6 cm | OFC: N/A | OFC: 28 cm | OFC: 26 cm | OFC: 28 cm | OFC: 29.25 cm | |
| Growth retardation/Dwarfism | + | + | + | + | + | + | + |
| Microcephaly | + | + | + | + | ± | + | + |
| ID/DD | + | + | + | + | + | + | + |
| Dysmorphic facies | + | + | + | + | + | + | + |
|
Large ears Prominent nose Thin lip Sagittal ridging Lateral eyebrow flare Glabellar hemangioma Small anterior fontanelle |
Small anterior fontanelle |
Large ears Lowset ears “Elfin” facies Upturned mouth |
High nasal bridge Upslanting PF Pre‐auricular sinuses |
Large, dysplastic ears Micrognathia Upslanting, small PF Epicanthal folds Prominent occiput Long philtrum Small nose Depressed nasal bridge Small anterior fontanelle |
Prominent nose Micrognathia Thin lip Sloped forehead |
Prominent nose Micrognathia Upslanting, short PF High/broad forehead Lowset ears |
|
| Cardiac involvement | + | − | − | − | + | − | + |
|
Atrial septal defect Patent ductus arteriosis |
Heart murmur RV and RA hypertrophy |
Atrial septal defect | |||||
| Musculoskeletal involvement | + | − | + | + | + | + | + |
|
Rocker bottom feet Single palmar creases Possible lack of interosseus muscles in fingers |
Hypotonia Thin extremities Decreased muscle mass Congenital absence of teeth |
Clinodactyly Hip dislocation Talipes cavus Hypertonia Cerebral palsy Tapered fingers |
Clinodactyly Hypotonia Hip dislocation Retroposition of 4th toe Short extremities/fingers Split vertebra |
Hypoplastic thumbs Radially deviated hands Absent 1st metacarpals Abnormal tendinous attachment of thumbs |
Rocker bottom feet Clinodactyly Single flexion crease |
||
| Genitourinary involvement | + | − | − | − | − | − | + |
|
Cryptorchidism Inguinal hernia Penile phimosis |
Dysplasic right kidney Renal cyst Vesicoureteric reflux |
||||||
| Other functional abnormalities | + | − | + | + | + | − | − |
|
Mild hearing loss Hypothyroidism Transient thrombocytopenia Diffuse encephalopathy |
Abnormal growth hormone |
Anemia Acute myeloid leukemia |
Ascites Hepatosplenomegaly Vomiting daily Tube fed |
||||
| Other structural abnormalities | + | − | − | − | + | − | + |
|
High arched palate Anterior placed anus Sacral pit Primitive sulci/gyral pattern DCC Brain tumor |
Macrocephaly Hydrocephalus Cleft palate |
DCC |
BL, birth length; BW, birth weight; OFC, occipitofrontal head circumference; PF, palpebral fissures; RA, right atrium; RV, right ventricle; ID, intellectual disability; DD, developmental delay; DCC, dysgenesis of corpus callosum.