- Email: [email protected]
Pierre Robin syndrome associated with hypoplastic femora—another case report
British Journal
of Plastic Surgery (1981), 34, 309-311
@07-1226/81,019X-0309 $02.00
Pierre Robin syndrome associated with hypoplastic femora-another case report R. M. SANDISON
and J. S. JOHNSON
Orthodontic Department, Royal Manchester ChildrenS Hospital, Pendlebury and the Department of Orthodontics, Turner Dental School, University of Manchester
Maisels and Stilwell (1980) have recently described the existence of a pattern of human malformation that includes clefts of the secondary palate, retrognathia and skeletai disturbances notably dysplasia of the femora. We wish to report another case. A baby girl, the third child in the family with two normal siblings, became dyspnoeic shortly after birth. This was considered’to be the result of marked retrognathia and glossoptosis (Figs. 1 and 2) associated with a U-shaped cleft of the secondary palate (Fig. 3). The picture was that of a typical Pierre Robin syndrome baby, with an unusual facial appearance, both eyes being
Fig. 2
Fig. 1 Full face view of infant lower jaw and unusual facies.
at birth
to show
slightly protruberant and with a suggestion of hypertelorism. A “feed plate” was provided and the infant nursed prone for the first two weeks of life on a frame as described by Tulloch and MacFarlane (1978). It was also noticed that the lower limbs were extremely short (Fig. 4). X-ray examination showed shortening of both femoral shafts with unusual broadening of the metaphysis (Fig. 5).
undershot
309 JPS
(j
Profile view to show retrognathia.
310
Fig. 3 Intra-oral soft palate.
BRITISH
view to show
U-shaped
cleft of hard
JOURNAL
OF
PLASTIC
SURGERY
and
Fig. 5 X-ray to show the short lower limbs, hypoplastic and broadening of the metaphyses.
similar changes were noted in ‘both upper limbs (Fig. 6). Femoral disturbances of growth have been linked in some cases with maternal diabetic traits (Williamson, 1970). In our case there was no such family history. It was of interest, however, that the maternal grandfather was extremely short in stature due to lack of development of both lower limbs. Daentl et al. (1975) gave the name “Femoral hypoplasia-Unusual facies syndrome” to a pattern of facial malformation that included retrognathia and clefts of the palate. It would seem that our child, like those reported by Maisels and Stilwell are in fact babies with the Pierre Robin syndrome who present other congenital skeletal abnormalities as part of a more general syndrome.
Very
Fig. 4 General view of head, trunk and limbs to show the facial deformity and the short lower limbs.
femora
PIERRE
ROBIN
SYNDROME
ASSOCIATED
WITH
HYPOPLASTIC
FEMORA
311
References Daentl, D. L., Smith, D. W., fbtt; C. k., Hall, k D, and Gooding, C. A. (1975). Femoral hypoplasia-unusual fades syndrome. Journal of Paediatrics, 86, 107. Maisels, D. 0. and Stilwell, J. H. (1980). The Pierre Robin syndrome associated with femoral dysgenesis. British Journal ofPlastic Surgery, 33, 237. Tulloch, J. F. C. and MacFarIane, J. M. (1978). Neonatal respiratory distress-a simple cradle for micrognathia and glossoptosis. Journal of Laryngology and Orology. 92, 403. Williamson, D. A. (1970). A syndrome of congenital malformations possibly due to maternal diabetes. Deueldpmenral Medicine and Child Neurology. 12. 145.
The Authors J. S. Johnson, PhD, MSc, FDS, Head of the Department of Orthodontics. Turner Dental School, University of Manchester. R. M. Sandison. BDS, FDS, DOrth. RCS, Turner Dental School. University of Manchester.
Requests for reprints to: J. S. Johnson, PhD, MSc. FDS, Head’ d&e Department of Orthodontics. Turner Dental School. Bridgeford Street. Manchester Ml5 6FH. Fig. 6 humerus
X-ray to show hypoplasia and thickening of the in the same child. (Both humeri were affected.)
of Plastic Surgery (1981), 34, 309-311
@07-1226/81,019X-0309 $02.00
Pierre Robin syndrome associated with hypoplastic femora-another case report R. M. SANDISON
and J. S. JOHNSON
Orthodontic Department, Royal Manchester ChildrenS Hospital, Pendlebury and the Department of Orthodontics, Turner Dental School, University of Manchester
Maisels and Stilwell (1980) have recently described the existence of a pattern of human malformation that includes clefts of the secondary palate, retrognathia and skeletai disturbances notably dysplasia of the femora. We wish to report another case. A baby girl, the third child in the family with two normal siblings, became dyspnoeic shortly after birth. This was considered’to be the result of marked retrognathia and glossoptosis (Figs. 1 and 2) associated with a U-shaped cleft of the secondary palate (Fig. 3). The picture was that of a typical Pierre Robin syndrome baby, with an unusual facial appearance, both eyes being
Fig. 2
Fig. 1 Full face view of infant lower jaw and unusual facies.
at birth
to show
slightly protruberant and with a suggestion of hypertelorism. A “feed plate” was provided and the infant nursed prone for the first two weeks of life on a frame as described by Tulloch and MacFarlane (1978). It was also noticed that the lower limbs were extremely short (Fig. 4). X-ray examination showed shortening of both femoral shafts with unusual broadening of the metaphysis (Fig. 5).
undershot
309 JPS
(j
Profile view to show retrognathia.
310
Fig. 3 Intra-oral soft palate.
BRITISH
view to show
U-shaped
cleft of hard
JOURNAL
OF
PLASTIC
SURGERY
and
Fig. 5 X-ray to show the short lower limbs, hypoplastic and broadening of the metaphyses.
similar changes were noted in ‘both upper limbs (Fig. 6). Femoral disturbances of growth have been linked in some cases with maternal diabetic traits (Williamson, 1970). In our case there was no such family history. It was of interest, however, that the maternal grandfather was extremely short in stature due to lack of development of both lower limbs. Daentl et al. (1975) gave the name “Femoral hypoplasia-Unusual facies syndrome” to a pattern of facial malformation that included retrognathia and clefts of the palate. It would seem that our child, like those reported by Maisels and Stilwell are in fact babies with the Pierre Robin syndrome who present other congenital skeletal abnormalities as part of a more general syndrome.
Very
Fig. 4 General view of head, trunk and limbs to show the facial deformity and the short lower limbs.
femora
PIERRE
ROBIN
SYNDROME
ASSOCIATED
WITH
HYPOPLASTIC
FEMORA
311
References Daentl, D. L., Smith, D. W., fbtt; C. k., Hall, k D, and Gooding, C. A. (1975). Femoral hypoplasia-unusual fades syndrome. Journal of Paediatrics, 86, 107. Maisels, D. 0. and Stilwell, J. H. (1980). The Pierre Robin syndrome associated with femoral dysgenesis. British Journal ofPlastic Surgery, 33, 237. Tulloch, J. F. C. and MacFarIane, J. M. (1978). Neonatal respiratory distress-a simple cradle for micrognathia and glossoptosis. Journal of Laryngology and Orology. 92, 403. Williamson, D. A. (1970). A syndrome of congenital malformations possibly due to maternal diabetes. Deueldpmenral Medicine and Child Neurology. 12. 145.
The Authors J. S. Johnson, PhD, MSc, FDS, Head of the Department of Orthodontics. Turner Dental School, University of Manchester. R. M. Sandison. BDS, FDS, DOrth. RCS, Turner Dental School. University of Manchester.
Requests for reprints to: J. S. Johnson, PhD, MSc. FDS, Head’ d&e Department of Orthodontics. Turner Dental School. Bridgeford Street. Manchester Ml5 6FH. Fig. 6 humerus
X-ray to show hypoplasia and thickening of the in the same child. (Both humeri were affected.)