Table 1

Clinical manifestations in 12 novel cases of opsismodysplasia

Case 1Case 2Case 3Case 4Case 5Case 6Case 7Case 8Case 9Case 10Case 11Case 12
Ethnic originFrenchFrenchFrenchFrenchAlgerianGermanFrenchAlgerianAlgerianAlgerian
Consanguineous parents−−−−−−+−−+++
Recurrence in sibs+Case 1 sib+Case 3 sib−Case 9 sib+−Case 6 sib−−+
Karyotype46,XY46,XX46,XY45,XO46,XX46,XY46,XY46,XX46,XY46,XY46,XX46,XX
Prenatal findingsShort femora (24 w) Narrow thorax Short handsIUGR (15 w) HygromaIUGR (24 w) Narrow thorax Short handsIUGR (14 w) HygromaShort femora (24 w) Narrow thorax Short hands and feetShort femora (22 w) Narrow thorax Short hands−Polyhydramnios Increased OFC Short femora−−−−
Birth length??33 cm (29 w)9.5 cm (14 w)31 cm (29 w)25.5 cm (22 w)49 cm45.5 cm49 cm48 cm47.5 cm46 cm
Birth weight??1280 g30 g1400 g440 g2370 g?3400 g3245 g3260 g?
Birth OFC??29 cm8 cm29 cm19.5 cm35 cm?36 cm?36 cm?
Large anterior fontanelle??+?++++++++
Dysmorphic features++++++++++++
Coarse face??+???++++++
High forehead+?++??++++++
Short nose+?++++++++++
Long philtrum??+?++++++++
Thin upper lip??−?+?++++++
Abnormal ears+?−?+?+−++++
Respiratory insufficiency?+++−−−
Pulmonary hypoplasia??+?+
Short hands, feet++++++++++++
Psychomotor development−−−−−−HypotoniaMotor delay, normal cognitive developmentNormalNormalNormalNormal
Malformations−−−−−−Septal defectPersistent ductus arteriosusUreteral anomaly−−−
OutcomeTermination of pregnancy (24 w)Termination of pregnancy (15 w)Termination of pregancy (29 w)Termination of pregnancy (14 w)Termination of pregnancy (29 w)Termination of pregnancy (22 w)Death (3 mth) respiratory distress28 mth Stature <−7 SD Scoliosis Coxa valga11 y Stature <−3.5 SD Scoliosis Limbs: varus incurvation11 y Stature <−3 SD Limbs: varus incurvation scoliosis15 y Stature <−5 SD Scoliosis Bowed legs15 ys Stature <−5 SD Scoliosis Bowed legs Coxa valga