Skip to main content

Table 2 Anomalies associated with type II MRKHSa

From: Clinical and radiological presentation of familial Mayer-Rokitansky Küster-Hauser syndrome in three sisters with literature review

Site of anomaly

Description

Associated risk

Renal anomalies

Renal agenesis, dysplasia, hypoplasia,

and ectopia

Infection

Stone. Hydronephrosis

Skeletal malformations

-Vertebral dysplasia

- Malformed or missing ribs

- Scoliosis

-Elevation of scapula

-Sacralization and lumbarization

-Spina bifida

Limited cervical

motion

Short neck

Sprengel deformity

Abnormalities

of the head and face

Micrognathia (small jaw)

Cleft lip, cleft palate, facial asymmetry

 

Hearing

Hearing loss (conductive or sensory)

 

Abnormalities of the extremities

(ectrodactyly): absence of a portion of one or more fingers or toes

(syndactyly): webbing of the fingers or toes

Duplicated thumb

Absent radius

 

Heart malformations

Atrial septal defect ASD

Tetralogy of Fallot

Pulmonary stenosis

 
  1. aSummarized results from all cases reviewed in our paper