Patient Country | Growth | Clinical features | ||||||||||||
Sex | Gestn (weeks) | Lgt cm (SD) | OFC cm (SD) | Weight kg (SD) | Recent exam (age): | Height cm (SD) | OFC cm (SD) | Weight kg (SD) | Development | Facial dysmorphism | Skeletal | Hearing | Other features of note | |
P1
Turkey | M | 40 | na | na | 1.5 (−5.28) | 9 years 6 months | 115 (−3.48) | 48 (−3.97) | na | Delayed development, | Small dysplastic ears, high arched palate, micrognathia. | Absent patella. | Mild hearing loss. | Hypopigmentation. |
P2
USA | M | 39 | na | na | 2.35 (−2.36) | 7 years | 98 (−4.62) | 46.4 (−4.59) | 13 (−5.46) | Delayed motor development (walking 3.5 years). | Prominent forehead, triangular face. | Bilateral absent patella. | na | Bilateral clubfeet, avascular necrosis of right hip. |
P3
USA | F | 39 | 46 (−1.51) | 34 (−0.11) | 2.2 (−2.28) | 29 years 10 months* | 142 (−3.62) | 55 (−0.37) | 93 (+2.88) | Normal | Ear anomalies | Absent patella | na | Diabetes (possibly steroid induced), treated with GH as teenager, haemoptysis and deceased. |
P4
USA | M | 32 | 37 (−1.97) | 28 (−0.94) | 1.08 (−1.85) | 8 years 0 months | 98.4 (−5.26) | 47 (−4.35) | 12.3 (−7.27) | Motor and speech delay, hypotonia and normal cognition | Microtia, submucosal cleft and bifid uvula. | Bilateral congenital knee dislocations, hyperextension and dislocation of both knees at birth and bilateral absent patella. | Conductive hearing loss (EAC stenosis). | Spontaneously resolved nystagmus, mild left optic nerve hypoplasia, bilateral inguinal hernia and bilateral single incomplete palmar creases . |
Gestn (gestation), Lgt (length), OFC (occipital frontal circumference), SD (SD from the mean for age and sex). All birth parameter SDs calculated using Fenton growth charts,29 recent exam SDs calculated using the LMS growth calculator.
*Height and weight SDs based on 23 years of age, OFC SD based on 17 years of age.
EAC, external auditory canal; GH, growth hormone; MGORS, Meier-Gorlin syndrome.