Prenatal Diagnosis: * Aymé, et al. (1989) reported prenatal diagnosis of<unk>  by sonography between 24 and 27 weeks. * Manouvrier-Hanu et al. (1996) described the prenatal diagnosis of<unk>  by ultrasonographic detection of diaphragmatic hernia and cystic hygroma. The diagnosis was confirmed after termination of the pregnancy. The fetus also had 2 erupted incisors; natal teeth had not been mentioned in other cases of<unk> . Differential Diagnosis: * McPherson et al. (1993) noted the phenotypic overlap between<unk>  and the Pallister–Killian syndrome (601803), which is a dysmorphic syndrome with tissue-specific mosaicism of tetrasomy 12p. * Veldman et al. (2002) discussed the differentiation between<unk>  and Pallister–Killian syndrome, noting that differentiation is important to genetic counseling because<unk>  is an autosomal recessive disorder and Pallister–Killian syndrome is usually a sporadic chromosomal aberration. However, discrimination may be difficult due to the phenotypic similarity. In fact, in some infants with 'coarse face,' acral hypoplasia, and internal anomalies, the initial diagnosis of<unk>  had to be changed because mosaicism of isochromosome 12p was detected in fibroblast cultures or kidney tissue. Although congenital diaphragmatic hernia is a common finding in both syndromes, bilateral congenital diaphragmatic hernia had been reported only in patients with<unk>  until the report of the patient with Pallister–Killian syndrome by Veldman et al. (2002). * Slavotinek (2004) reviewed the phenotypes of 52 reported cases of<unk>  and reevaluated the diagnostic guidelines. She concluded that congenital diaphragmatic hernia and distal limb hypoplasia are strongly suggestive of<unk> , with other diagnostically relevant findings including pulmonary hypoplasia, craniofacial dysmorphism, polyhydramnios, and orofacial clefting. Slavotinek (2004) stated that other distinctive anomalies not mentioned in previous guidelines include ventricular dilatation or hydrocephalus, agenesis of the corpus callosum, abnormalities of the aorta, dilatation of the ureters, proximal thumbs, and broad clavicles.
Fryns syndrome
McGillivray syndrome
Sly syndrome
Pretzel syndrome
Fryns-Aftimos syndrome
Cortes Lacassie syndrome
Rapunzel syndrome
Kearns–Sayre syndrome