E. Ferda Perçin

First-Trimester Diagnosis of Robinow Syndrome

We present 2 cases with Robinow syndrome in a nonconsanguineous Turkish couple. The first case, second living child of the family, has all of the cardinal features of this syndrome including short stature, mesomelic shortening of forearms, frontal bossing, hypertelorism, anteverted nares, triangular mouth, hypoplastic genitalia and vertebral and costal anomalies. The second case was diagnosed with first-trimester ultrasonographic findings such as shortening of extremities and increased nuchal translucency thickness at 12 + 4 weeks of gestation, and the family wished to terminate this pregnancy. After abortion, we obtained findings such as typical face features, shortening of forearms, ambiguous genitalia suggesting Robinow syndrome with autopsy examination.

Anencephalic Infant With Cleft Palate and Natal Teeth: A Case Report

Objective Natal/neonatal teeth are very common in children with complete unilateral and bilateral cleft lip and palate. This article outlines a patient with intrauterine growth retardation, anencephaly, atrial septal defect, ventricular septal defect, two maxillary first natal incisor teeth, cleft palate, short neck, low-set ears, hypertelorism, retrognathia, and simian-line on the right hand. There is no conclusive evidence of a correlation between these findings and a known syndrome, suggesting that this case may be a hitherto undefined clinical combination with neonatal teeth.

A new syndrome with cardiac malformation, cleft lip-palate, microcephaly and digital anomalies ?

A family with cardiac malformation, cleft lip‐palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal curvature of the 4th toes with syndactyly of the 2nd and 3rd toes has been described as having a new syndrome. While some members of the family had full signs of the syndrome, others had similar but fewer and less severe anomalies of the same structures. The presence of common findings in three generations, its variable expressivity and pleiotropism, and the non‐consanguineous history in the parents suggest that the inheritance is autosomal dominant.

Waardenburg syndrome type I and small patella syndrome in the same patient

lateral dystopia canthorum, abnormal pigmentation (heterochromia irides, white forelock and/or hypopigmented macules on the skin), broad nasal root, synophrys and sensorineural deafness.1–6 However, the clinical features are variable and these stigmata may be present in any combination and degree. Major manifestations of small patella syndrome (SPS) are hypoplasia of patellae and pelvic dysplasia.1,3,7,8 The mode of inheritance of both syndromes is autosomal dominant.3 In the present paper, we report a very interesting case in whom both syndromes, WSI and SPS, were observed.