Pseudo-prognathism: an auxiliary ultrasonographic sign for transvaginal ultrasonographic diagnosis of cleft lip and palate in the early second trimester. Am J Obstet Gynecol 1991;165:1314–1316. 16. Bronshtein M, Gershoni-Baruch R. [synapse.koreamed.org]

Sonography revealed a fetus with hydrops, bilaterally enlarged echogenic kidneys, and short extremities. The infant died at birth and autopsy was compatible with short-rib polydactyly syndrome type II, Majewski type. [ncbi.nlm.nih.gov]

All are perinatally lethal disorders and are characterized by very short extremities, small thorax, large head, Fig. 2.2. Asphyxiating thoracic dysplasia in a male newborn. Note elongated, narrow thorax, with short ribs and wide anterior ends. [rrnursingschool.biz]

We report a case of SRPD subtype II (Majewski) that was detected in the 36th week of gestation, showing hydropic change, narrow thorax, shortened limbs, protuberant abdomen, micromelia, polydactyly and extremely low set ears, depressed nasal bridge, and [ncbi.nlm.nih.gov]

ears Low set ears Lowset ears [ more ] 0000369 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Median cleft lip and palate Central cleft lip and palate Midline cleft lip/palate [ more ] 0008501 Narrow chest Low [rarediseases.info.nih.gov]

set ears, hypo/microdontia, abnormal nails and hair, and a high incidence of development of renal symptoms [ 23 ]. [ciliajournal.biomedcentral.com]

The pregnancy was terminated, and a fetus was delivered with facial dysmorphism, a median cleft lip, a narrow chest, micromelia, aplasia of tibiae, hypoplastic nails, syndactyly and postaxial polydactyly. The karyotype was 46,XX. [ncbi.nlm.nih.gov]

The phenotype of this fetus supports the previously suggested hypothesis that the different subtypes of the short rib and polydactyly syndrome are not single entities, but rather, part of a continuous spectrum with variable expressivity. [ncbi.nlm.nih.gov]

Histopathologic study showed the chondrocytes to contain previously undescribed cytoplasmic inclusion bodies that were PAS-positive and diastase-resistant. [ncbi.nlm.nih.gov]

inclusion bodies "bajonet" deformity of the ribs for misalignment and overlap of cartilaginous and bony ends. ( 11815874 ) This deformity resulted from a ’tandem’ change in endochondral bone formation that is, arrested orthotopic cartilage maturation [humpath.com]