1162 Archives ofDisease in Childhood 1991; 66 1162.1163 Family implications of neonatal Gorlin's syndrome Arch Dis Child: first published as 10.1136/adc.66.10_Spec_No.1162 on 1 October 1991. Downloaded from

D G R Evans, D G Sims, D Donnai

Abstract calcification of the falx cerebri and a pituitary Two very preterm infants (born at 29 and 25 fossa totally bridged by bone, and chest radio- weeks, respectively) were found to have graphs showed bilateral bifid . The baby's abnormal ribs. Though this was thought elder brother aged 5 had had a skull radiograph unimportant at the time, it was subsequently done that showed calcification within the falx shown to indicate that some members of their cerebri, but his other radiographs showed no families had a dominantly inherited risk of abnormality. The 4 year old brother had been developing skin cancer and other serious diagnosed as having arrested congenital hydro- problems. cephalus and chest radiograph confirmed the presence of two bifid ribs. The baby's 21 month old brother's head circumference was 52-8 cm Case reports (>2 SD above the normal mean), he had a CASE 1 bossed forehead, and with an A 22 year old mother with three sons was interpupillary distance of 5 5 cms (>2 SD above delivered by emergency caesarean section for the normal mean). Radiographs showed bifid breech presentation and placenta praevia. A boy anterior ends of his left third and fourth ribs, weighing 1200 g was born at 29 weeks' gestation. and minor of his spine in the mid Serious neonatal illnesses followed, and included thoracic region. No members of the family had idiopathic respiratory distress syndrome (treated yet presented with basal cell carcinomata or jaw with prolonged ventilatory support), tension cysts. pneumothorax, bronchopulmonary dysplasia, and episodes of acute circulatory collapse (need- ing -full cardiopulmonary resuscitation). He CASE 2 also had convulsions with intraparenchymal Four and a half months after case 1 had haemorrhage, bleeding from puncture sites as a presented, a 31 year old mother was transferred result of consumptive coagulopathy, acute renal to this hospital with twins and polyhydramnios failure (treated by peritoneal dialysis), ileal at 25 weeks' gestation. Fetal ultrasound studies perforation (requiring laparotomy), and suggested that the second twin had hydro- coagulase negative staphylococcal and candida cephalus. The first twin, a girl, was born by septicaemias. Early routine chest radiographs normal delivery at 25 weeks' gestation and showed incidentally that the right third and weighed 825 g. Serious neonatal problems fifth, and the left fifth, ribs were bifid (fig 1). included idiopathic respiratory distress syn-

He had a large anterior fontanelle and open drome (treated with ventilator support), tension http://adc.bmj.com/ posterior fontanelle at 5 weeks of age. The pneumothorax, and convulsions associated with opinion of a geneticist was sought. intraparenchymal haemorrhage. A chest radio- The 25 year old father gave a history of graph showed normal ribs. She died on the dislocated from birth, examination of seventh day of life and postmortem examination which showed Sprengel's deformity. He had was not performed. pronounced frontal bossing with a head circum- The second twin (case 2), also a girl, was ference of 62-8 cm (>5 SD above the normal stillborn after breech delivery. Intensive resus- mean). He had hypertelorism with an inter- citation of the externally normal baby was on September 25, 2021 by guest. Protected copyright. pupillary distance of 6-8 cm (>2 SD above the successful. Idiopathic respiratory distress syn- normal mean) and downslanting palpebral fis- drome was treated with ventilator support but sures. Skull radiographs showed prominent the baby died aged 29 hours. Chest radiographs showed that the right second, third, fourth, and fifth ribs were duplicated in the middle third, and that the left sixth was also bifid (fig 2). The scapulas were rotated medially and superiorly suggesting the possibilityofSprengel's deformity. Postmortem examination showed no other deformities and in particular, no evidence St Mary's Hospital, of internal hydrocephalus. In view of our recent Hathersage Road, experience with case 1 the parents were investi- Manchester M13 OJH Department of Medical gated further. Genetics The baby's mother had had five jaw cysts D G R Evans removed since the age of 11 years. On examina- D Donnai tion she had a head circumference of 56-8 cm Department of (>2 SD above the normal mean), pronounced Paediatrics D G Sims frontal bossing, and pits in the palms of her hands and feet. She had multiple milia on her Correspondence to: Dr Evans. forehead, and hypertelorism, with an inter- Accepted 10 April 1991 Figure I Radiograph ofcase I showing bifid ribs. pupillary distance of 6-5 cm (>2 SD above the Family implications ofneonatal Gorlin's syndrome 1163

keratocysts of the jaw and multiple basal cell Arch Dis Child: first published as 10.1136/adc.66.10_Spec_No.1162 on 1 October 1991. Downloaded from carcinomata.' Affected subjects have coarse facies, with frontal bossing, and hypertelorism. They may also have multiple milia on the face and pits in the palms and soles. Skeletal anomalies are usually present, includ- ing bifid ribs, vertebral anomalies, calcification of the falx, and bridging of the sella turcica- the last two of which are often present in early childhood. Sprengel's deformity and ovarian fibromata are other common features. The main complications of asymptomatic basal cell carcinomata (third decade onward) and jaw cysts (second and third decade) neces- sitate regular (annual) screening with skin examination and orthopantograms of the jaws. Figure 2 Radiograph ofcase 2 showing the right second, surgery third,fourth, andfifth ribs duplicated in the middle third, Major and disfiguring is often required and bifid left sixth rib. Scapulas are rotated medially and if these gene manifestations are not detected at superiorly suggesting Sprengel's deformity. an early stage. Isolated bifid rib is present in 3-6-2/1000 live births,2 3 but in 60% of people with Gorlin's normal mean). There were no signs of basal cell syndrome.' The finding of bifid ribs on chest carcinomata. Radiographs showed scoliosis of radiographs of the two index cases was of no the spine, a calcified ovarian fibroma, calcifica- clinical importance at the time, but had major tion of the faix cerebri, and some minor rib implications for other affected family members anomalies on chest radiography. who have a high risk of developing jaw cysts (85%) and basal cell carcinomata (90%). Discussion 1 Gorlin RJ. Nevoid basal cell carcinoma syndrome. Medicine The appearance of early calcification of the falx, 1987;66:99-113. multiple rib anomalies, and hypertelorism in 2 Etter LE. Osseous abnormalities of thoracic cage seen in 40 000 consecutive chest roentograms. AJR 1944;51: subjects with macrocephaly segregating in an 259-63. autosomal dominant manner is highly sug- 3 Ashbury HE, Wilding JG, Rogers FT. Roentgenological reports of chest examination made of registrants at US army gestive of Gorlin's syndrome. Gorlin's syn- induction station No 6, third corps area, Baltimore, Md, drome is characterised by the association of May 1, 1941 to March 31, 1942. AJR 1942;48:345-51. http://adc.bmj.com/ on September 25, 2021 by guest. Protected copyright.