Yunis-Varon syndrome with severe osteodysplasty.

Abstract

We report two male sibs and two female sibs from separate families, both with normal parents, who had a lethal condition with features of the YunisVaron syndrome and radiological signs of severe osteodysplasty. Autosomal recessive inheritance is likely in both families. The additional features described represent further delineation of the phenotype of the Yunis-Varon syndrome.The Yunis-Varon syndrome was recently reviewed by Hennekam and Vermeulen-Meiners' who added a further case to the seven reported previously. The condition was first described in 1980 when Yunis and Varon2 reported five patients from three Columbian families with cleidocranial dysostosis, severe micrognathia, bilateral absence of the thumbs and first metatarsal bones, and distal aphalangia. They all died before 10 weeks of age. The presence of consanguinity in three of the families reported and the lack of sex predilection were thought to be consistent with autosomal recessive inheritance.The four patients whom we describe had similar hands and feet and similar facial features to those described in the Yunis-Varon syndrome. However, our cases did not have absent clavicles and one pair of sibs reported here had pathological fractures. All (fig 1) with prominent eyes and indentation of the temples. The corneal membrane over the outer part of the iris was opaque. The ears were low set with absent lobes, the nose was small, and the palate high arched. The chest was long and the liver and spleen were palpable. The kidneys were easily palpable but were normal on ultrasound examination. The testes were descended but the scrotum was bifid and there was coronal hypospadias. The hands and feet were particularly abnormal. The left thumb was absent, the right vestigial, and the fingers were short with very small nails (fig 2). The big toes were absent and the remaining toes short with poorly formed nails. The hips did not abduct fully. TORCH screen was negative and there was a normal male chromosome complement, 46,XY. CT scan showed a small mass thought to be a haematoma in the right parietal region.The radiographs (figs 3 to 6) showed the following features. The iliac wings were flared and there were constrictions in the supra-acetabular regions, producing notching of the lateral borders. The acetabula were short and sloping and there was coxa valga with bilateral hip dislocation (fig 3). The scapulae were abnormal, with constrictions adjacent to the glenoid fossae. The metaphyses of the long bones were flared. The long bone diaphyses and ribs were slender, with irregular, thickened cortices. In the hands (fig 4) and feet ( fig 5) the first metatarsals and metacarpals were absent, as were the phalanges of the thumbs and big toes. The distal phalanges of all the digits were absent, and the middle phalanges were absent or hypoplastic. There was an unusual coarse and stellate trabecular pattern of ossification in the parietal and occipital bones (fig 6).The baby had breathing difficulties initially and required oxygen for several days. At 3 mo...

Congenital heart malformation in Yunis-Varon syndrome.

“…[2][3][4][5] hypoplastic scapulae, a mild kyphosis at the cervicothoracic junction, broad sacrosciatic notches, failure of ossification of the pubic bones and of the symphysis pubis, and left hip dislocation. The distal phalanx of the thumb, index, and little fingers were hypoplastic, the first metacarpal was short, and there was hypoplasia of the middle phalanges of both little fingers with clinodactyly.…”

Yunis–Varon syndrome: Further delineation of the phenotype

“…Several authors have reported patients with this condition; five cases, Garrett et al [1990] four cases, Hughes and Partington [1983] and Lapeer and Fransman [1992] reported the same case, and Partington [1988], Pfeiffer et al [1988], Hennekam and VermeulenMeiners [1989], Adès et al [1993], Dworzak et al [1995], Rabe et al [1996], Christie et al [1999], Walch et al [2000], Sumi et al [2004], Bhatia and Holla [2005], Kulkarni et al [2006] reported one case each. We also included unpublished clinical data on the sib of the patient described by Hennekam and VermeulenMeiners [1989].…”

“…In addition, fetal US for detection of polyhydramnion, hydrops fetalis, ventriculomegaly and additional brain abnormalities is of importance. Garrett et al [1990] a Limb X-ray results not reported in two patients.…”

Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: Milder variant of osteocraniostenosis or new syndrome?

“…Some patients reported as Yunis-Varon syndrome may have a distinct condition that resembles osteocraniostenosis. Garrett et al [1990] described a severe form of the Yunis-Varon syndrome in a patient with normal clavicles, supra-acetabular constrictions, and flared metaphyses. Patients 880 and 881 in REAMS [Hall and Washbrook, 2000] show extreme thinning of the long bones, fractures, drumstick-shaped metacarpals and phalanges (as in osteocraniostenosis), normal spine, and 1st ray hypoplasia.…”