Sonographic in utero appearance of kleeblattschäudel syndrome

Abstract

Kleeblattschadel syndrome or cloverleaf skull syndrome is a n unusual and rare form of congenital hydrocephaly caused by premature fusion of the coronal and lambdoidal sutures. The resultant increased intracranial pressure causes formation of a grotesque trilobed skull. Other associated anomalies include low-set ears and petrous ridges, varying degrees of exophthalmos, facial deformities, long-bone abnormalities, and gastrointestinal tract abnormalities. This report describes the intrauterine sonographic appearance of such an infant. CASE REPORTA healthy 30-year-old Caucasian woman (gravida 3, para 1, abortus 1) was referred for sonographic gestational dating prior to expected repeat cesarean section. The initial examination a t 18 weeks by menstrual dates showed biparietal diameters corresponding to a 15.7-week fetus. At 32 weeks by menstrual dates the biparietal diameters corresponded to a 25.3-week fetus. The head was normally shaped, and no other fetal abnormalities were appreciated in either examination, even in retrospect (Fig. 1).Three weeks later the head measurements indicated 26.9 weeks, rather than the expected 35 weeks by biparietal diameters. The head-thorax ratio measured 0.78, and the lateral ventricles were thought to be dilated (Fig. 2).The last scan a t 37 weeks of gestation by menstrual dates demonstrated the retarded cranial size (30.4 weeks), the lateral ventricular enlargement, the abnormal head-thorax ratio, and

Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis

“…We detected fusion of the cervical vertebral bodies prenatally in one of our cases but not in another (Table ). This confirms the finding of others that, whilst fusion of vertebrae is a classical feature of PS on postnatal or postmortem examinations, it is difficult to be depicted on prenatal US . In a study of cervical spines of children and adolescents with PS, vertebral fusion affected vertebral bodies as well as posterior arches, with C2‐C3 being the most commonly affected level .…”

“…Pfeiffer syndrome, first described in 1964, affects males and females equally . Brahman provided the first sonographic observation of craniosynostosis, in 1979, describing “Kleeblattschädel syndrome,” then Salvo in 1981 . Pfeiffer syndrome is known for its clinical variability and expressivity, even in the same family; thus, the prenatal diagnosis of PS may be challenging.…”

Prenatal sonographic appearance of asymmetric craniosynostosis: a case report.

“…Abnormal fetal skull contours must be evaluated carefully. Prenatal sonographic evaluation should include the following: (1) symmetry of the calvarium contour (coronal views through temporallobes9 and the orbits should be included), (2) continuity of the calvarium (to exclude encephalocele), (3) size and shape of the orbits (to assess any deformity), (4) cerebral ventricular size (to exclude ventriculomegaly), (5) brain parenchyma pattern (to exclude intracranial lesion), (6) overall head size, including circumference (to help evaluate need for possible cesarean section), (7) surrounding structures (for any extrinsic effects), and (8) detailed fetal examination (to search for skeletal or other abnormalities).…”

“…Radiographic evaluation included plain skull radi· ographs and computed tomography including three· dimensional computed tomographic reconstruction (Figs. [3][4][5]. Both lambdoid sutures were reportedly seen, as was the posterior sagittal suture.…”

Prenatal Diagnosis of Apert Syndrome with Cloverleaf Skull Deformity Using Ultrasound, Fetal Magnetic Resonance Imaging and Genetic Analysis

“…Hadlock et al [16] have already demonstrated that a significant change in the fetal skull shape might alter the BPD. Also, according to Burrows et al [17] and Brahman et al [18] , the earliest cranial changes in craniosynostosis include abnormalities in the biparietal distance. Stamm et al [19] reported that features of cloverleaf skull include trilobed skull, increased biparietal diameter and hydrocephaly, which is consistent with the findings in the case presented.…”