The Robinow Syndrome

Abstract

A 13-year-old boy with the Robinow syndrome exhibited previously unreported anomalies of the digits, oral cavity, and middle ear. There was a marked phenotypic overlap between the Robinow syndrome and the Aarskog-Scott syndrome.In 1969, Robinow et al1 described a mother and her three children with a syndrome characterized by mesomelic dwarfism, genital hypopla¬ sia, and distinctive facies. Additional cases recently reported by Wadlington et al,2 Vera-Roman,1 Robinow,4 and Feingold and Bull5 have broad¬ ened the description of the phenotype of individuals with the syndrome and have made the pattern of inheritance less clear." We report here the results of detailed studies of an additional case that showed marked digital, oral, and middle ear anomalies not previ¬ ously noted. REPORT OF A CASEThe patient was first seen at the Johns Hopkins Hospital at 13 years of age for evaluation of short stature and genital hypoplasia. He was the product of a fullterm pregnancy of a 27-year-old, gravida 4, para 4 mother, and a 35-year-old unre¬ lated father. His birth weight was 2,950 gm (6.5 lb). Sex identity was initially un¬ certain because of bilateral cryptorchidism and micropenis. He was also noted to have a relatively large head, midfacial hypo-plasia, and unusual facies. No neonatal problems occurred, and initial growth and development were normal.The first deciduous tooth erupted at 7 months of age. The deciduous teeth failed to exfoliate normally, and several were ex¬ tracted to allow eruption of their perma¬ nent successors. The first permanent tooth did not erupt until 8 years of age.An umbilical hernia was repaired at 1year of age. At 8 years of age, a five-week course of human chorionic gonadotropins (three injections weekly) failed to alter the cryptorchidism. However, it did lead to the appearance of pubic hair. At 9 years of age, he underwent myringotomies with in¬ sertion of polyethylene tubes for correction of a conductive hearing loss secondary to chronic serous otitis media. At 10 years of age, a right orchiorrhaphy was unsuccess¬ ful due to vascular compromise of the tes¬ tis. At 11 years of age, a left orchiorrhaphy brought the testis to the upper part of the scrotum only. He performed on an age-ap¬ propriate level in school.The father was 178 cm (5 ft 11 inches) tall and the mother was 157.5 cm (5 ft 3 inches) tall. Siblings included a 20-year-old brother 178 cm (5 ft 11 inches) tall, a 17year-old sister 162.5 cm (5 ft 5 inches) tall, and a 15-year-old sister 167.5 cm (5 ft 7 inches) in height. None exhibited any fa¬ cial, digital, or genital anomalies and all were in good health. Physical ExaminationAt 13 years 2 months his height was 146.5 cm (4 ft 10% inches) (tenth percen¬ tile) and his weight 35.6 kg (78.5 lb) (tenth percentile). His arm span was 140 cm (4 ft 8 inches) (at 13 years of age, the arm span normally exceeds the height by 3 cm [1.2 inches]).' The upper segment measure¬ ment was 75.3 cm (30.1 inches) and the lower segment was 71 cm (28.4 inches), Fig 1.-Patient at 13 years of age.with upper ...

A Case of Robinow Syndrome Accompanied by Partial Growth Hormone Insufficiency Treated with Growth Hormone

“…Although a short stature is one of the characteristic features of Robi now syndrome, there have been no reports on GH defi ciency. Although the BA for Robinow syndrome has been reported to be normal [1,8,12], in our case the BA was delayed, and the patient had partial GH insufficiency. We could not clarify whether this partial GH insufficiency is a part of Robinow syndrome or not.…”

Robinow syndrome: Report of two cases and review of the literature

“…Clinical differentiation of dominant RS is with Aarskog syndrome 26 . Both share some phenotypic similarity.…”

Congenital heart disease and Robinow syndrome: Coincidence or an additional component of the syndrome?

“…A summary of the cardiac findings in 6 previously reported cases of Robinow syndrome with CHD is given in Table I. The patient described by Kelly et al [1975] had an ejection click and systolic murmur at the left sternal edge. The echocardiogram was not diagnostic in that case, and no cardiac diagnosis was given.…”