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Table 1 Phenotypic Features of 3-M syndrome in three affected foetuses.

From: Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

CATEGORY

SUBCATEGORY

FEATURES

3a

4b

5b

Growth

Height

Short stature

+

+

+

 

Weight

Low birth weight

NA

NA

NA

 

Other

Intrauterine growth retardation

+

+

+

  

Postnatal growth retardation

NA

NA

NA

Head and Neck

Head

Frontal bossing

ND

+

+

  

Increased relative head circumference

ND

+

+

 

Face

Triangular face

ND

+

+

  

Pointed, prominent chin

ND

+

+

  

Hypoplastic midface

ND

+

+

  

Long philtrum

ND

ND

+

 

Eyes

Full eyebrows

NA

NA

NA

 

Nose

Fleshy, upturned nose

ND

ND

ND

  

Low nasal bridge

ND

+

+

  

Depressed nasal root

ND

ND

ND

  

Anteverted nares

ND

ND

+

 

Mouth

Full lips

NA

NA

NA

 

Neck

Short neck

NA

NA

NA

Respiratory

 

Neonatal respiratory distress

NA

NA

NA

Chest

External Features

Short, wide, flat thorax

NA

NA

NA

  

Pectus excavatum

NA

NA

NA

 

Ribs, Sternum, Clavicles and Scapulae

High, square shoulders

NA

NA

NA

  

Rib hypoplasia

NA

NA

NA

  

Winged scapulae

NA

NA

NA

Abdomen

External Features

Enlarged abdomen

NA

NA

NA

Genitourinary

External Genitalia (Male)

Hypospadias

NA

NA

NA

  

Small testes

NA

NA

NA

Skeletal

General

Delayed bone age

+

+

+

  

Joint hypermobility

NA

NA

NA

  

Joint dislocation

NA

NA

NA

 

Skull

Dolichocephaly

ND

ND

ND

 

Spine

Tall vertebral bodies

ND

ND

ND

  

Hyperlordosis

NA

NA

NA

 

Pelvis

Hip dislocation

NA

NA

NA

  

Small pelvis

NA

NA

NA

 

Limbs

Long, slender tubular bones

NA

+

+

 

Hands

Short fifth fingers

NA

NA

NA

  

Clinodactyly

NA

NA

NA

 

Feet

Prominent heels

NA

+

+

  

Pes planus

NA

NA

NA

Skin, Nails, Hair

Hair

Full eyebrows

NA

NA

NA

Neurologic

Central Nervous System

Normal intelligence

NA

NA

NA

  

Spina bifida occulta

NA

NA

NA

  1. aultrasound and radiograph; bformal autopsy performed; NA (Not applicable); ND (Not done or tested)