Roberts-Syndrom

Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report. Radiographic examination of the pelvis and the lower limbs showed hypoplastic iliac bones, a hypoplastic left femur with subsequent development of femoral-tibial synostosis. Fixed flexion deformities of the knees was apparent, but with maximal intensity over the left knee. Bilateral fibular aplasia, the ankles showed defective ossification associated with hypoplasia of the distal phalange.

Femoral-tibial-synostosis

in a child with Roberts syndrome (Pseudothalidomide): a case report. Radiographic examination of the pelvis and the lower limbs showed hypoplastic iliac bones, a hypoplastic left femur with subsequent development of femoral-tibial synostosis. Fixed flexion deformities of the knees was apparent, but with maximal intensity over the left knee. Bilateral fibular aplasia, the ankles showed defective ossification associated with hypoplasia of the distal phalange.

casesjournal.biomedcentral.com • CC-by-2.0

Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report. Radiographic examination showed, hypoplastic humeri, agenesis of the radii and ulnae, defective ossification of the carpals and hypoplasia of the distal phalanges.

Femoral-tibial-synostosis

in a child with Roberts syndrome (Pseudothalidomide): a case report. Radiographic examination showed, hypoplastic humeri, agenesis of the radii and ulnae, defective ossification of the carpals and hypoplasia of the distal phalanges.

casesjournal.biomedcentral.com • CC-by-2.0

Case of so called Roberts" syndrome, depicted in John Bingham Roberts report in Annals of Surgery vol. 70, 1924. This report says that infant was of Italian parentage, belonging to a family in which there was a good deal of intermarrying. The parents of this child are first cousins. There are two living children, one eleven years; one, three, both girls. The first child, born in Italy, was a monstrosity and is dead. The two next children are normal in development. Three years ago a girl was born almost identical in deformities with this male child shown the Academy. The girl just mentioned died shortly after birth and this boy did die when fifteen days old.

Case of so

called Roberts" syndrome, depicted in John Bingham Roberts report in Annals of Surgery vol. 70, 1924. This report says that infant was of Italian parentage, belonging to a family in which there was a good deal of intermarrying. The parents of this child are first cousins. There are two living children, one eleven years; one, three, both girls. The first child, born in Italy, was a monstrosity and is dead. The two next children are normal in development. Three years ago a girl was born almost identical in deformities with this male child shown the Academy. The girl just mentioned died shortly after birth and this boy did die when fifteen days old.

Wikipedia • Public domain

Radiopaedia • CC-by-nc-sa 3.0 • de

Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome.

Clinical presentation

general
- intrauterine growth restriction
- postnatal growth retardation
- failure to thrive
- thrombocytopenia
craniofacial
- silvery blonde and sparse scalp hair
- microcephaly
- hypertelorism
- prominent eyes (exophthalmos) due to the shallowness of the orbits
- coloboma
- congenital cataracts
- wide nasal bridge/hypoplastic nasal alae
- facial hemangioma
- midfacial cleft
- bilateral cleft lip/palate
- prominent premaxilla
- delayed eruption of permanent teeth
- dysplastic ears, including hypoplastic lobes
- brain malformations
skeletal
- phocomelia
- tetramelia
- asymmetrical limb reduction
- oligodactyly
- syndactyly
- flexion joint contractures
renal malformations
- renal dysplasia
- polycystic kidneys
- horseshoe kidney
congenital cardiac anomalies
- atrial septal defect
- patent ductus arteriosus
- common atrioventricular canal
genitourinary malformations
- hypogonadism
- hypospadias
- cryptorchidism
- macropenis
- clitoromegaly

Pathology

It has an autosomal recessive inheritance, and is caused by mutations to the ESCO2 gene .

Radiographic features

limb
- asymmetrical reduction anomalies of all extremities: ~90%
- synostoses: humeroradial/humero-ulnar, femorotibial
- radial deviation of hands
- oligodactyly/brachydactyly: 80%
- clinodactyly of index finger
- soft tissue syndactyly: 40%
- clubfoot (t alipes equinovarus)
cranial
- microcephaly, brachycephaly, oxycephaly
- Wormian bones
facial
- maxillary agenesis
- cleft palate
- orbital hypertelorism
truncal/rib
- fused ribs
- spina bifida
- platyspondyly