Table 2.

Comparison of growth, physical characteristics, radiographic findings, and intellect in subjects 1 + 2, MOPDII, and Seckel syndrome

	MOPD II	Seckel syndrome	Cases 1 and 2
Anthropometrics
Prenatal growth	IUGR	IUGR	IUGR
Postnatal growth	Growth retardation	Growth retardation	Growth retardation
Head size	Microcephaly, severe	Microcephaly, severe	Microcephaly, severe
Adult height	Short stature, severe	Short stature, severe	Short stature, severe
Physical characteristics
Facies	Asymmetry	Occassional asymmetry	No asymmetry
Eyes	Normal	Down-slanting palpebral fissures, strabismus, cataracts	Hypotelorism
Ears	Normal	Low-set, malformed, lack of lobule	Small
Nose	Long, prominent tip, hypoplastic alae nasi	Prominent	Prominent
Jaw	Micrognathia	Micrognathia	Normal
Teeth	Hypoplasia, partial anodontia, enamel hypoplasia	Partial anodontia	Normal
Extremities	Short lower arms		Normal
Puberty	Premature puberty	Males: cryptorchidism Delayed puberty	Absent thelarche, menarche
Radiographic
Hand	General brachdactyly, diaphyseal constriction	Clinodactyly fifth fingers, absence of some phalangeal epiphyses	Normal phalangeal length, clinodactyly fifth fingers, abnormal carpal bones
Wrist	Flat shape distal radius and ulna	Hypoplasia of proximal radius with dislocation of radial head	Foreshortened ulna (Madelung deformity)
Thorax		11 ribs
Spine		Scoliosis	Lumbar scoliosis
Hip		Dysplasia	Dysplasia
Extremities		Hypoplasia of proximal fibula; gap between first and second toes
Other features
Acanthosis nigricans-insulin resistance, type 2 diabetes	Reported	Not reported	Not observed
Intelligence	Normal	Mild-moderate learning disability	Significant learning disability
Seizures		Occasional	Present
Gene mutations	PCNT	ATR, CENPJ, CEP152, CEP63, RBBP8	NIN

IUGR, Intrauterine growth retardation.