Table 1 Clinical Findings.
Case | R98-443 | R13-147A |
|---|---|---|
Diagnosis | ATD | Short Rib Polydactyly Syndrome type II (Mohr-Majewski) |
Gestational Age at Delivery (weeks) | Full term | 35wk 4d |
Birthweight (grams) | 3797 g | 3000 g |
Birth Length (cm) | 42.5 cm | 38 cm |
Apgar Scores | 9, 9 | Decreased minutes after birth |
Head | Dolicocephaly, relative macrocephaly and with prominent occiput | Dolicocephaly, relative macrocephaly. Prominent forehead and occiput |
Face | Prominent eyes, depressed nasal bridge with long philtrum | Flattened facies with midface hypoplasia |
Ears | Right-sided pre-auricular pit without cystic swelling of the ear cartilage | Low set of ears |
Heart | Normal | Ventricular septal defect |
Thorax/Abdomen | Long and narrow thoracic cage with shortened ribs | Extreme shortened chest, severe pulmonary hypoplasia, omphalocele |
Genitalia | Normal male. Both testes descended. | XY male with female genitalia |
Neuro | Global hypotonia | Global hypotonia |
Upper extremities | Rhizomelic shortening of the upper extremities greater than lower extremities, bilateral mesomelia of radii and ulnae | Extreme micromelia |
Hands and feet | Broad hands and feet with short stubby fingers, bilateral simian creases and all of the fingers had two rather than three flexion creases | Polydactyly and syndactyly in the hands and feet |
Lower extremities | Bowing of the mesomelic segment, dimples over the lateral knees | Extreme micromelia |
