Table 1.
Clinical Features of the Ten OPS Families
| Ethnic Origin | CS | Prenatal Findings | Parameters at Birth | Facial Features | Respiratory Insufficiency | Short Hand, Feet | Other | Outcome | |
|---|---|---|---|---|---|---|---|---|---|
| Family 1, Sib 1 | Arab Moslem | 1st cousin | short long bones (25 WG) | W 2,700 g; L 41.5 cm; HC 32.5 cm | hypertelorism, high forehead, short nose, long philtrum, large fontanelle | – | yes | – | died at 15 months |
| Family 1, Sib 2 | Arab Moslem | 1st cousin | short long bones | ? | ? | – | yes | – | termination of pregnancy |
| Family 2 (male) | Somalian | no | ? | ? | coarse face, hypertelorism, high forehead, short nose, large fontanelle | lung infections | yes | – | 4 years old; L, W ≤5 SD, HC P3 |
| Family 3, Sib 1 (male) | French/Algerian | no | ureteral dilatation | W 3,400 g; L 49 cm; HC 36 cm | coarse face, high forehead, short nose, long philtrum, large fontanelle | – | yes | paraplegia after surgery for scoliosis | 19 years old; H 140 cm; W 36 kg |
| Family 3, Sib 2 (male) | French/Algerian | no | polyhydramnios, short femora (22 WG), narrow thorax, short hands, feet | W 440 g; L 19.5 cm (22 WG) | high forehead, short nose | lung hypoplasia | yes | – | termination of pregnancy (22 WG) |
| Family 4 (male) | Portuguese | 1st cousin | short limbs | W 3,300 g; L 45 cm; HC 38 cm | hypertelorism, frontal bossing, short nose, long philtrum, macrostomia, wide fontanelle | yes; narrow thorax | yes | cervical kyphosis, scoliosis | 19 years |
| Family 5, Sib 1 (male) | French | no | short limbs (24 WG), short hands, narrow thorax | W 1,280 g; L 33 cm; HC 29 cm (29 WG) | coarse face, high forehead, short nose, long philtrum | pulmonary hypoplasia | yes | – | termination of pregnancy (29 WG) |
| Family 5, Sib 2 (female) | French | no | hygroma, short limbs (14 WG), narrow thorax | W 30 g; L 9.5 cm (15 WG) | – | – | – | – | termination of pregnancy (15 WG) |
| Family 5, Sib 3 (female) | French | no | hygroma, narrow thorax, short limbs | W 40 g; L 8.5 cm (14 WG) | – | – | – | – | termination of pregnancy (14 WG) |
| Family 6 (male) | Arab (Saudi) | 1st cousin | short limbs | ? | hypertelorism, midface hypoplasia, wide fontanelle, broad forehead | chronic lung disease | yes | tricuspide and mitral valve prolapse | 3.5 years old |
| Family 7 (male) | Algerian | 2nd cousin | – | W 3120 g; L 34 cm; HC 34 cm | high forehead, short nose with anteverted nares | – | yes | scoliosis, lower limb varus deformity | 9 years old; H 115 cm (≤4 SD); W 24.9 kg; HC 55.5 cm |
| Family 8, Sib 1 (female) | French | no | short femora (24 W), short hands, narrow thorax | W 1,400 g; L 29 cm; HC 31 cm | coarse face, high forehead, short nose | pulmonary hypoplasia | yes | – | termination of pregnancy (29 WG) |
| Family 8, Sib2 (female) | French | no | hygroma, IUGR | L 9 cm (15 WG) | – | – | yes | – | termination of pregnancy (15 WG) |
| Family 9 (male) | Brazil | 1st cousin | short limbs, polyhydramnios | W 1,455 g; L 32 cm; HC 29 cm | brachycephaly, midface hypoplasia, broad forehead, short nose, long philtrum, retrognathia, low-set ears | pulmonary hypoplasia | yes | short neck, narrow thorax, prominent calcaneus | stillborn (30 WG) |
| Family 10, Sib 1 (male) | Brazil | 7th cousin | short limbs, narrow thorax, polyhydramnios | W 2,620 g; L 40 cm; (35 WG) | brachycephaly, midface hypoplasia, broad forehead, short nose, low-set ears | yes | yes | absence right kidney (prenatal US) | died at 5 days |
| Family 10, Sib 2 | Brazil | 7th cousin | short limbs, narrow thorax, platspondyly | W 2,420 g; L 35.5 cm; HC 36 cm (36 WG) | brachycephaly, midface hypoplasia, broad forehead, short nose, low-set ears | yes | yes | – | died at 30 min |
Abbreviations are as follows: CS, consanguinity; WG, weeks of gestation; L, length; W, weight; HC, head circumference; IUGR, intrauterine growth retardation; ?, unknown; –, no.
Families 3–5 have been previously published in Cormier-Daire et al.4 and family 4 was previously published in Santos et al.17