PIERRE ROBIN ANOMALAD
Robin sequence previously known as Pierre Robin syndrome and Pierre Robin anomalad consists of three essential components:
- Cleft palate (usually
U-shaped, but V-shape also occurs)
(often accompanied by airway obstruction).The tongue is not actually
larger than normal, but because of the small mandible, it is large for the
airway and causes obstruction. Rarely, it can be smaller than normal.
Abnormal karyotypes in 10% of
Pierre Robin syndrome is classified as a first branchial
arch syndrome (1). Most cases are sporadic, however there are reported familial
cases associated with several syndromes.
- Cleft palate (U-shaped and
- Ear defects.
- Eye defects.
- Cardiac anomalies (20%) (15).
Normal upper and lower lip
Robin sequence (RS) is etiologically heterogenous.
Etiologic heterogeneity suggests pathogenetic
heterogeneity and phenotypic variability. These include various causes of
malformations and deformations, and connective tissue dysplasia
(see in details in the next Section). A major distinction should be made
between isolated occurrences of Robin sequence and cases in which RS is part of
a recognized syndrome, or part of a complex of multiple anomalies or an
Isolated RS is often a deformation resulting from intra-uterine forces
acting on the mandible, which restrict its growth and impact the tongue between
the palatal shelves. Some deformational cases of RS have been associated with oligohydramnios. The most severe cases of micrognathia are unlikely to be isolated RS caused by
The proportion of cases that are isolated varies in different studies.
Hanson and Smith (1975) found that 25% of RS
cases had specific syndromes, another 35% had multiple anomalies without a
specific recognized syndrome, and only 40% had isolated RS.
Williams et al (1981) found that 74% of RS cases
were isolated. Among syndromic cases, the most common
is Stickler’s syndrome which makes up 20-25 % of all RS cases.The second most common RS syndrome is Velocardiofacial syndrome, about 15% of all RS cases (Shprintzen, 1981). Treacher
Collins syndrome, Nager syndrome, spondyloepiphyseal
dysplasia congenita, and
other recognized syndromes make up the rest of the syndromic
Cohen (1997) listed 46 conditions associated
with RS. When a diagnosis of RS is made, a full genetic evaluation (including
FISH for 22q deletion, test for mutation in Treacle(TCOF1)
gene) is appropriate, together with diagnostic tests for other suspected
syndromes (skeletal X-Rays, ophthalmology exam, etc.).
40% of infants with Pierre Robin have Stickler Syndrome.
- Stickler Syndrome may
be the most common tissue disorder in the United States, possibly
affecting 1 in 10,000 persons
- some degree of cleft
- cataracts and/or
retinal detachment at an early age
- flat face
- skeletal abnormalities
15% have Velocardiofacial Syndrome.
known as VCFS or as Shprintzen Syndrome, is the
most common syndrome associated with cleft palate. Approximately 1 in
2,000-5,000 children are born with VCFS.
- a long face with a
prominent upper jaw
- flattening of the
- an underdeveloped
- a bluish color below
- a prominent nose with
narrow nasal passages
- a long thin upper lip
and a down-slanting mouth
- cleft palate or submucous cleft palate
- multiple abnormalities
of the heart
- learning disabilities
in one or more areas
- hearing loss
- problems with speech
- leg pain
- extremes of behavior
- CHARGE Syndrome
- Fetal Alcohol Syndrome
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